Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microphthalmia, Microcephaly, Brachydactyly |
OMIM:233270 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Thick corpus callosum, Macrocephaly, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand po... |
OMIM:615938 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hyperpigmentat... |
ORPHA:158029 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Clouston Syndrome |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Small nail, Short stature, Brittle hair, Alopecia total... |
OMIM:129500 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Downslanted palpebral fissures, Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocyti... |
OMIM:300946 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Micr... |
ORPHA:64754 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Flotch Syndrome |
|
Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyelash morphology, Spa... |
ORPHA:2045 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin, Anemia |
OMIM:617409 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Decreased testicular size, Developmental cataract, Growth delay, Thrombocyt... |
OMIM:601815 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Poikiloderma With Neutropenia |
|
Conjunctivitis, Sparse eyebrow, Splenomegaly, Leukopenia, Sparse lateral eyebrow, Short stature, ... |
OMIM:604173 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Ptosis, Cataract,... |
OMIM:222300 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Anophthalmia, Microphthalmia, Microcephaly, Occipital encephalocele, ... |
OMIM:613885 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Melanocytic nevus, Short stature, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Skin rash, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Neutropen... |
OMIM:603552 |
Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Microphthalmia, Microcephaly |
ORPHA:3434 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones... |
ORPHA:232 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Short stature, Attention deficit hyperactivity disord... |
OMIM:619151 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Abnormality of skin pigmentation, Infertility |
OMIM:300719 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Rocker bottom f... |
OMIM:616570 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... |
OMIM:600384 |
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Thick eyebrow, Micropenis, Macrocytic anemia, Cryptorchidism |
OMIM:620071 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Congenital hip dislocation, Mic... |
OMIM:164180 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Dyskeratosis Congenita |
|
Premature graying of hair, Abnormal testis morphology, Neoplasm of the pancreas, Abnormal eyelash... |
ORPHA:1775 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Premature graying of hair, Bone marrow hypocellularity, Sparse eyelashes,... |
OMIM:305000 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial h... |
ORPHA:945 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, Conjunctivitis, Absent eyelashes, Ankyloblepharon, Vaginal dryness, Supernumera... |
OMIM:106260 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Megaloblastic anemia, Eczema, Lymphopenia, Pancytopenia, Recurrent pneumonia, T... |
OMIM:617780 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Alopecia, Anemia, Osteomyelitis, Short stature, Hepatitis, Skin rash, Arthritis, ... |
ORPHA:47 |
Deafness, Congenital, With Total Albinism |
|
Albinism, Hypogonadism |
OMIM:220900 |
Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Diamond-Blackfan Anemia 8 |
|
Short stature, Growth delay, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Cafe-au-lait spot, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular ... |
OMIM:615234 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cleft palate, Tooth agenesis, Non-midline cleft lip |
ORPHA:1074 |
Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Macrocephaly, Hydrocephal... |
ORPHA:1931 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Primary adrenal insufficiency, Graves disease, Vitiligo, Aplasia/Hypo... |
ORPHA:227990 |
Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... |
ORPHA:93320 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Leukopenia, Anemia, Premature graying of hair, Interstitial pneumonitis, Lymphopenia, N... |
OMIM:127550 |
Congenital Ptosis |
|
Cafe-au-lait spot, Piebaldism, Unilateral narrow palpebral fissure, Premature ovarian insufficien... |
ORPHA:91411 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Primary adrenal insufficiency, Graves disease, Vitiligo, Aplasia/Hypo... |
ORPHA:227982 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Conjunctivitis, Sparse eyebrow, Folliculitis, Ectropion, Keratitis, Sparse eyelashes, Blepharitis |
OMIM:308800 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... |
OMIM:211960 |
Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t... |
ORPHA:3392 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Sparse eyebrow, Alopecia, Folliculitis, Scarring alopecia of scalp, Nail dysplasi... |
OMIM:612843 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... |
OMIM:615771 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyl... |
ORPHA:139471 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... |
ORPHA:998 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Chemosis, Keratitis, Loss of eyelashes, B... |
ORPHA:163934 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Vitili... |
OMIM:614700 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Hypopigmented streaks, Abnormality of the nail, Blepharitis |
ORPHA:254478 |
Humero-Radial Synostosis |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... |
ORPHA:3265 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Delayed puberty, Psoriasiform dermatitis, Short stature, Blepharitis |
OMIM:616834 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism, Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Bone marro... |
OMIM:618849 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Anophthalmia, Hip ... |
OMIM:206920 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia, Short stature |
ORPHA:90023 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sparse eyebrow, Downslanted palpebral fissures, Short stature, Epicanthus, Macrocytic anemia, Low... |
OMIM:606164 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Death in infancy |
OMIM:258320 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Anemia, Absent pubertal growth spurt, Fair hair, Sparse facial hair, Fine hair, L... |
OMIM:250250 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Microcephaly |
OMIM:251220 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Olmsted Syndrome, X-Linked |
|
Blepharitis, Posterior blepharitis |
OMIM:300918 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay |
OMIM:243320 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Shawl scrotum, Abnormal erythrocyte morphology, Hypospadias, Gastritis, Fol... |
ORPHA:2575 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Corneal opacity, Curly ey... |
OMIM:602400 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... |
OMIM:615297 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis... |
ORPHA:380 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Chronic oral candidiasis, Cheilitis, Blepharitis |
OMIM:615527 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Albinism-Deafness Syndrome |
|
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Multiple cafe-au-lait spots, Growth delay, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Agitation, Ptosis, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Reticulocytopenia, Short stature, Erythroid hypoplasia, Hypospadias, Macrocytic anemia |
OMIM:612528 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Allergic rhinitis, Leukocytosis, Eosinophilia |
ORPHA:26137 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... |
ORPHA:1528 |
Wt Limb-Blood Syndrome |
|
Irregular hyperpigmentation, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia, Hypoplasti... |
OMIM:194350 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Otitis media,... |
OMIM:601457 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypothyroidism, Hypogonadism, Ptosis, Cataract, Diabetes mellitus, Macrocytic anemia, Dysphagia |
ORPHA:98673 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopen... |
OMIM:598500 |
Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Eczema, Chronic leukemia, Thrombocytopenia, Arthritis, Neutropenia, Mic... |
ORPHA:906 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Type I diabetes mellitus, Pancytopenia, Increased mean corp... |
OMIM:620044 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Sparse scalp hair, Eczema, Sparse eyelashes, Blepharitis, Sparse hair, Slow-gro... |
OMIM:618535 |
Xeroderma Pigmentosum |
|
Alopecia, Melanocytic nevus, Entropion, Hypogonadism, Short stature, Ankyloblepharon, Decreased t... |
ORPHA:910 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly,... |
OMIM:603194 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Anemia, Cafe-au-lait spot, Dysplastic erythropoesis, Reticulocytopenia, Hypogonad... |
ORPHA:300298 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Macrocytic anemia, Thrombocytopenia, Pancreatitis |
ORPHA:27 |
15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of anti-neutropil anti... |
OMIM:607594 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Agenesis of cerebellar vermis, Anencephaly, Hydrocephalus, Microphtha... |
OMIM:611134 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... |
OMIM:218670 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Skin rash, Erythroid hyperplasia, Hepatosple... |
OMIM:609628 |
16Q24.3 Microdeletion Syndrome |
|
Astigmatism, Abnormal hair pattern, Cryptorchidism, Dysphagia, Upslanted palpebral fissure, Incre... |
ORPHA:261250 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Recurrent aphthous stomatitis, Short stature, Thyroiditis, Infertility, Eczema, Stomati... |
OMIM:212750 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Decreased proportion of class-switched memory B cells, Recurrent sinusitis, Recur... |
OMIM:613493 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Hypoplasia of the corpus callosum... |
OMIM:615665 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Occipital en... |
OMIM:611561 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
Diamond-Blackfan Anemia 4 |
|
Short stature, Reticulocytopenia, Erythroid hypoplasia, Growth delay, Macrocytic anemia, Neutropenia |
OMIM:612527 |
Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microphthalmia, Microcephaly |
ORPHA:291 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius |
ORPHA:2476 |
Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ... |
OMIM:300751 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Zika Virus Disease |
|
Conjunctivitis, Myelitis, Infectious encephalitis, Skin rash, Retinal pigment epithelial mottling... |
ORPHA:448237 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Abnormal T cell morphology, B lymphocytopenia, Chronic sinusitis, Recurrent otiti... |
OMIM:612692 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Recurrent aphthous stomatitis, Short stature, Leukocytosis, Maculopapular exanthe... |
OMIM:191900 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Deviation of finger, Anophthalmia |
ORPHA:1104 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Diabetes mellitus,... |
OMIM:249270 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Anemia, Recurrent aphthous stomatitis, Short stature, Skin rash, Arthritis, Uveit... |
ORPHA:575 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia, Short stature |
ORPHA:49827 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... |
OMIM:603546 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Hypopigmentation of the skin, Recurrent bacterial skin infections, Hemolytic anemia, ... |
ORPHA:79277 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Hypothyroidism, Decreased circulating aldosterone level, Chronic active hepatitis, Adre... |
OMIM:240300 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Eec Syndrome |
|
Sparse eyebrow, Urethral atresia, Hypoplasia of the thymus, Corneal erosion, Generalized hypopigm... |
ORPHA:1896 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Chromosome 15Q25 Deletion Syndrome |
|
Downslanted palpebral fissures, Hyperactivity, Short stature, Synophrys, Polysplenia, Attention d... |
OMIM:614294 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Small nail, Short stature, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisoc... |
OMIM:615631 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Cavum septum pellucidum, Hydrocephalus, Syndactyly, Megalencephaly, Microphthalmia, ... |
OMIM:602501 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hypopigmentation of the skin, Hemolytic anemia, Scleritis, K... |
ORPHA:95159 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... |
ORPHA:2839 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Ifap Syndrome 2 |
|
Angular cheilitis, Keratoconjunctivitis sicca, Cataract, Keratitis, Sparse hair, Nail dystrophy, ... |
OMIM:619016 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of t... |
ORPHA:166024 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, ... |
ORPHA:35858 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Growth delay, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Seckel Syndrome 2 |
|
Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger, Microcephaly, Microphthalmia |
OMIM:606744 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Epicanthus, Short stature, Pure red cell a... |
ORPHA:124 |
Hydrolethalus |
|
Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydac... |
ORPHA:2189 |
Porphyria, Congenital Erythropoietic |
|
Conjunctivitis, Alopecia, Hypopigmentation of the skin, Splenomegaly, Hemolytic anemia, Short sta... |
OMIM:263700 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... |
ORPHA:1617 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Conjunctivitis, Alopecia, Anemia, Corneal scarring, Nail dysplasia, Cataract, Growth delay, Dysph... |
OMIM:226600 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Eczema, Recurrent otitis media, Conjunctival telangi... |
OMIM:619774 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Hypogonadism, Short stature, Erythroid hypoplasia, Nail dystrophy, Testicular atrophy, Gr... |
OMIM:618165 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci... |
ORPHA:91349 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... |
OMIM:182230 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Median cleft lip and palate, Median cleft lip, Non-midline cleft palate, S... |
ORPHA:1991 |
Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Normocytic anemia, Premature ovarian insufficiency, Decreased circulating cortisol lev... |
ORPHA:199299 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Intrauterine gro... |
ORPHA:2169 |
Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Absent lacrimal punctum, Aplasia of the ovary, Absent nipple, Breast ap... |
ORPHA:69085 |
Lissencephaly 8 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... |
OMIM:617255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, ... |
OMIM:613155 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Short toe, Hallux valgus, Spina bifida, Toe syndactyly, Short distal pha... |
ORPHA:1327 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Eczema, Bone marrow hypocellularity, Thro... |
ORPHA:811 |
Griscelli Syndrome |
|
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Short stature, Hepatitis, Iri... |
ORPHA:381 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Intrauterine growth retardation |
OMIM:615578 |
Acrodermatitis Enteropathica |
|
Conjunctivitis, Alopecia, Abnormal eyebrow morphology, Abnormal eyelid morphology, Corneal erosio... |
ORPHA:37 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Microphthalmia, Cerebellar hypoplasia |
OMIM:614830 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anemia, Abnormality of skin pigmentation, Scarring alopecia of scalp, Growth de... |
ORPHA:79402 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... |
OMIM:240500 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Conjunctivitis, Skin rash, Arthritis, Uveitis, Leukocytosis |
OMIM:120100 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of toes, Spina bif... |
ORPHA:2437 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Mild postnatal growth retardation, Erythroid hyperplasia, Reticulocytosis, Macr... |
OMIM:224120 |
Kid Syndrome |
|
Corneal erosion, Acne inversa, Keratoconjunctivitis sicca, Punctate keratitis, Recurrent cutaneou... |
ORPHA:477 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Ambiguous genitalia |
OMIM:209970 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly |
OMIM:617119 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Juvenile Xanthogranuloma |
|
Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Myeloproliferative ... |
ORPHA:158000 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microphthalmia, Microcephaly |
ORPHA:3469 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Fair hair, Blue irides, Sparse eyelashes, Blepharophimosis, Sparse axillary hair, Absence of Sten... |
OMIM:604292 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... |
ORPHA:1553 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Short stature, Abnormality of neutrophils |
ORPHA:2760 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Neutropenia, Lymphocytosis, Chronic irrita... |
OMIM:258360 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
Infantile Liver Failure Syndrome 1 |
|
Anemia, Macrocytic anemia |
OMIM:615438 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypopl... |
ORPHA:2117 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Erythroderma |
OMIM:614328 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Hypersplenism, Reduced hemoglobin A, Decreased mean corpus... |
ORPHA:231226 |
Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Short stature, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased m... |
ORPHA:98870 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Cockayne Syndrome Type 2 |
|
Conjunctivitis, Uveitis, Developmental cataract, Male hypogonadism, Cryptorchidism, Hypermelanoti... |
ORPHA:90322 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Arthritis, Lymphadenopathy |
OMIM:617772 |
Proteus Syndrome |
|
Downslanted palpebral fissures, Limbal dermoid, Ptosis, Depigmentation/hyperpigmentation of skin,... |
OMIM:176920 |
Moebius Syndrome |
|
Epicanthus, Breast aplasia, Ptosis, Multiple cafe-au-lait spots, Corneal opacity, Dysphagia, Hypo... |
ORPHA:570 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia |
OMIM:616176 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Reticulated skin pigmentation, Bone marrow hypocellularity, Gro... |
OMIM:613987 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Short stature, Epicanthus, Shawl scrotum, Long eyelashes, Intrauterine growth retardation, Highly... |
ORPHA:261279 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity, Intrauterine growth retardation |
ORPHA:1980 |
Hyperlysinemia, Type I |
|
Anemia, Hyperactivity, Ectopia lentis |
OMIM:238700 |
Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Nail dystrophy, Abnormal conjunctiva morphology, Reticular hyperpigmentation |
OMIM:125595 |
Hemochromatosis, Type 3 |
|
Anemia, Impotence, Arthritis, Lymphopenia, Hypogonadotropic hypogonadism, Hyperpigmentation of th... |
OMIM:604250 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Alazami-Yuan Syndrome |
|
Hyperactivity, Short stature, Synophrys, Long eyelashes, Hirsutism, Cryptorchidism, Thick eyebrow... |
OMIM:617126 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Type II lissencephaly, Microphthalmia, Occipital encephalocele, Macrocephaly at birth |
ORPHA:324416 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Arthritis, Neutrophilic infiltration of the skin, Chondriti... |
OMIM:301054 |
Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, ... |
ORPHA:231214 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Bronchiectasis, Epicanthus, Hepatitis, Skin rash, Arthritis, Sinus... |
ORPHA:33110 |
Trichothiodystrophy |
|
Tiger tail banding, Epicanthus, Keratoconjunctivitis sicca, Eczema, Split nail, Developmental cat... |
ORPHA:33364 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... |
OMIM:136760 |
Temtamy Syndrome |
|
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... |
ORPHA:1777 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Epicanthus, Recurrent hand flapping, Agitation, Compulsive behavior... |
ORPHA:100973 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Short palpebral fissure, Hyperactivity, Bilateral ptosis, Epicanthus, Short stature, Repetitive c... |
ORPHA:352490 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Keratoconjunctivitis, Eczema, Perioral eczema, Growth delay, Thrombocytopenia |
ORPHA:79242 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Fair hair, Nail dysplasia, Blue irides, Sparse eyelashes, Sparse hair, Telecanthus, Blepharophimo... |
OMIM:129900 |
Cockayne Syndrome Type 1 |
|
Conjunctivitis, Anemia, Uveitis, Male hypogonadism, Cataract, Cryptorchidism, Hypermelanotic macu... |
ORPHA:90321 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Spina bifida, Abnormal thumb morphology, Proximal... |
ORPHA:1120 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Decreased response to growth hormone stimulation test, Prostati... |
OMIM:307200 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Normocytic anemia, Abnormal spleen physiology, Increased pr... |
ORPHA:398063 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Short stature, External genital hypoplasia, Iris hypopigmentation, ... |
ORPHA:177910 |
Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Intrauterine growth retardation |
OMIM:189800 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Anemia, Skin rash, Arthritis, Lymphopenia, Myositis, Lymphadenopathy, Sinusitis, ... |
OMIM:617591 |
Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Growth delay, Macrocytic anemia, Esophagitis, Increased mean corpuscular ... |
OMIM:612562 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Short stature, Epicanthus, HbH... |
ORPHA:98791 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Leukopenia, Malar rash, Myelitis, Lymphopenia, Autoimmune thrombocytopenia, Optic neuri... |
OMIM:301080 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Decreased fertility, Small nail, Trichorrhexis nodosa, Brittle hair, Epicanthus, Keratoconjunctiv... |
OMIM:234050 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Epicanthus, Increased serum serotonin, Cataract, Hirsutism |
ORPHA:85288 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Ptosis, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Microphthalmia, Syndromic 8 |
|
Split foot, Microphthalmia, Microcephaly |
OMIM:601349 |
Hypocomplementemic Urticarial Vasculitis |
|
Conjunctivitis, Irregular hyperpigmentation, Skin rash, Inflammatory abnormality of the eye, Arth... |
ORPHA:36412 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microphthalmia, Cerebral atrophy, Microcephaly |
OMIM:274270 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microphthalmia, Microcephaly |
OMIM:619981 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Short... |
ORPHA:3322 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, H... |
ORPHA:899 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Epicanthus, Recurrent hand flapping, Agitation, Impulsivity, Stereo... |
OMIM:309548 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Attention deficit... |
ORPHA:3000 |
Crouzon Syndrome |
|
Conjunctivitis, Melanocytic nevus, Hypopigmented skin patches, Ptosis, Iris coloboma |
ORPHA:207 |
Addison Disease |
|
Decreased circulating aldosterone level, Decreased female libido, Decreased circulating cortisol ... |
ORPHA:85138 |
Dermatitis, Atopic |
|
Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, Keratoconus, Atop... |
OMIM:603165 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia, Abnormal hemo... |
ORPHA:848 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Hypogonadism, Short stature, Developmental cataract, Esophagitis, Abnormali... |
ORPHA:79351 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Hypopigmentation of the skin, Ocular albinism, Recurrent skin infections, Thrombocyto... |
OMIM:614171 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Short stature, Moderate intrauterine growth retardation, Decreased testicular size, Severe postna... |
ORPHA:293967 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Rhizomelia |
OMIM:166990 |
Cofs Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebra... |
ORPHA:1466 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia |
ORPHA:2440 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Conjunctivitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericarditis, Myositis, Lym... |
ORPHA:32960 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Skin rash, Inflammation of the large intestine, Colonic eosinophilia, Recurrent pn... |
OMIM:617718 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
Schisis Association |
|
Spina bifida, Anencephaly, Encephalocele, Microcephaly |
ORPHA:63862 |
Felty Syndrome |
|
Irregular hyperpigmentation, Anemia, Rhinitis, Arthritis, Synovitis, Generalized hyperpigmentatio... |
ORPHA:47612 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Short stature, Epicanthus, Skin rash, Stomatitis, Pancytopenia, Thr... |
OMIM:277380 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Downslanted palpebral fissures, Synophrys, Long palpebral fissure, Recurrent otit... |
OMIM:602562 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Leukopenia, Premature graying of hair, Short stature, Urethral stricture, Fine hair, Pa... |
OMIM:613990 |
Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Cerebellar hypoplasia, Toe synd... |
ORPHA:261344 |
Adams-Oliver Syndrome 3 |
|
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Microcephaly, Absent toe, Short distal phala... |
OMIM:614814 |
Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Chilblains, Intrauterine growth retardation, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Hypomelanosis Of Ito |
|
Clinodactyly, Hand polydactyly, Macrocephaly, Syndactyly, Radial deviation of finger, Microcephal... |
OMIM:300337 |
H Syndrome |
|
Bronchiectasis, Hepatosplenomegaly, Psoriasiform dermatitis, Alopecia, Abnormal eyebrow morpholog... |
ORPHA:168569 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip |
ORPHA:2736 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uve... |
OMIM:616744 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... |
ORPHA:1908 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Hypospadias, Short stature, Generalized hyperpigmentation |
ORPHA:1355 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis |
OMIM:237800 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Hypopituitarism, Erythroid hyperplasia, Delayed pubert... |
OMIM:600462 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Short stature, Podagra, Testicular atrophy, Dysphagia |
OMIM:300322 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ptosis, Sideroblastic anemia, Growth delay, Dysphagia |
OMIM:613561 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Isolated Agammaglobulinemia |
|
Anemia, Short stature, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnormality of ... |
ORPHA:229717 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thrombocytosis, Coliti... |
OMIM:604416 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Premature ovarian insufficiency, Synophrys, Lymphopenia, Abnormal r... |
ORPHA:391307 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... |
OMIM:169550 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Epicanthus, Hirsutism, Bruxism |
OMIM:300434 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Macrocephaly, Tapered finger, Clinodactyly of the 5th finger |
OMIM:618725 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia |
ORPHA:169079 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Macrocephaly, Metaphyseal cupping of ... |
OMIM:300863 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenome... |
OMIM:607616 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... |
ORPHA:71275 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hypothyroidism, Hypogonadism, Increased HbA2 hemoglobin, Adrenal insufficiency, E... |
ORPHA:231222 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Impaired ADP-induced platelet aggregation, Eczema, Impaired platelet aggregation, Psori... |
OMIM:617443 |
Transketolase Deficiency |
|
Conjunctivitis, Secondary amenorrhea, Type I diabetes mellitus, Uveitis, Abnormal repetitive mann... |
ORPHA:488618 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cel... |
OMIM:613673 |
Leukonychia Totalis |
|
Abnormal eyelash morphology, Blepharitis |
ORPHA:2387 |
Pancreatic Colipase Deficiency |
|
Growth delay, Megaloblastic anemia, Cholelithiasis |
ORPHA:309108 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia |
ORPHA:411986 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Sparse scalp hair, Long eyelashes, Eczema, Ptosis, Cryptorchidism, Thick eyebrow, ... |
OMIM:618362 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Nephritis, Cervical lymphadenopathy... |
OMIM:614034 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Spotty hyperpigmentation, ... |
ORPHA:324737 |
Acatalasemia |
|
Type II diabetes mellitus, Type I diabetes mellitus, Severe periodontitis, Vitiligo, Microcytic a... |
ORPHA:926 |
Fountain Syndrome |
|
Large hands, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Adult Syndrome |
|
Conjunctivitis, Sparse scalp hair, Fair hair, Sparse axillary hair, Absent nipple, Eczema, Nail p... |
OMIM:103285 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Agammaglobulinemia, X-Linked |
|
Conjunctivitis, Septic arthritis, Anemia, T lymphocytopenia, B lymphocytopenia, Prostatitis, Bron... |
OMIM:300755 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Abnormal eyelid morphology, Neutropenia, Short stature, Bone marrow hypocellularity, Anem... |
OMIM:614900 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebellar hypoplasia, Overlapping toe, Microphthalmia, Microcephaly,... |
OMIM:600118 |
Congenital Rubella Syndrome |
|
Anemia, Short stature, Aplasia/Hypoplasia of the iris, Skin rash, Type I diabetes mellitus, Abnor... |
ORPHA:290 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Hemochromatosis, Type 2B |
|
Anemia, Hypogonadism, Secondary amenorrhea, Hyperpigmentation of the skin, Splenomegaly |
OMIM:613313 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Downslanted palpebral fissures, Hypothyroidism, Short stature, Hepatosplenomegaly, Recurrent pneu... |
OMIM:619750 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral w... |
OMIM:619091 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia, Absent axillary hair |
OMIM:269600 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Microcephaly |
OMIM:147250 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Growth delay, Short stature |
OMIM:613606 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Eczema, Cataract, Dysphagia, Hypertrichosis, Microcytic anemia |
OMIM:612379 |
Curry-Jones Syndrome |
|
Hemimegalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, ... |
OMIM:601707 |
Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Leukopenia, Anemia, Recurrent bac... |
OMIM:214500 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Anemia, Corneal erosion, Entropion, Abnormality of neutrophils, Dyspareunia, Dysp... |
ORPHA:36426 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Trichothiodystrophy 1, Photosensitive |
|
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Hypogonadism, Sho... |
OMIM:601675 |
Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Macrocephaly, Brachydactyly, Syndactyly, Megalenceph... |
OMIM:600325 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation, Menorrhagia |
OMIM:124900 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Microphthalmia, Finger syndactyly, Cortical dysplasia |
ORPHA:261272 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short palpebral fissure, Downslanted palpebral fissures, Anemia, Small nail, Hyperactivity, Short... |
ORPHA:261323 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Eosinophilia, Thrombocytopenia, Cheilitis |
ORPHA:90045 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... |
OMIM:617927 |
Hemochromatosis, Type 4 |
|
Anemia, Impotence, Diabetes mellitus, Cataract, Hyperpigmentation of the skin, Osteoarthritis |
OMIM:606069 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Anemia, Abnormality of skin pigmentation, Dysphagia, Periodontitis, Phimosis, Eso... |
ORPHA:2908 |
Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Normocytic anemia, Chronic hemolytic anemia, Cholecystitis, Macrocytic anemia, ... |
OMIM:615512 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebr... |
OMIM:251270 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Epicanthus, Fair hair, Synophrys, Hydrocele testis, Hypoplastic f... |
ORPHA:280633 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Rhizomelia, Short stature, Eczema, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:618116 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Recurrent sinusitis, Parotitis, Panniculitis, Thrombocytopenia, Spleno... |
OMIM:256040 |
Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Short stature, Pa... |
OMIM:227650 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand |
DECIPHER:46 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal nasolacrimal system morphology, Corneal erosion, Scleritis, Eczema, Abnormality of the n... |
ORPHA:2273 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:295 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Cerebellar hypoplasia, Spina bifida, Toe syndactyly, Lissencephaly, Microcepha... |
OMIM:616038 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregati... |
OMIM:614074 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Upslanted palpebral fissure, Enlarged... |
OMIM:608233 |
Meckel Syndrome, Type 3 |
|
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... |
OMIM:607361 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Agenesis of co... |
OMIM:207950 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Cafe-au-lait spot, Reticulocytopenia, Epicanthus, Short stature, Intrauterine growth reta... |
OMIM:227645 |
Cogan Syndrome |
|
Conjunctivitis, Anemia, Scleritis, Inflammatory abnormality of the eye, Uveitis, Thrombocytosis, ... |
ORPHA:1467 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Premature graying of hair, Short stature, Urethral stricture, Pancytopenia, White for... |
OMIM:613989 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Micro... |
ORPHA:846 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum |
ORPHA:63260 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, T lymphocytopenia, Decreased serum estradiol, Short stature, Premature ovarian insuffic... |
ORPHA:2959 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II ... |
ORPHA:100 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Agenesis of ... |
OMIM:175700 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Small nail, Sparse scalp hair, Pterygium, Pancytopenia, Hyperpigmentation of the skin, Bone marro... |
OMIM:224230 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Chilblains, Hepatosplenomegaly |
OMIM:610329 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Optic ner... |
OMIM:615181 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Trisomy 13 |
|
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Microphthal... |
ORPHA:3378 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Synophrys, Hypoplasia of penis, Abnormal repetitive mannerisms, Pol... |
ORPHA:228402 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Thick corpus callosum, Hydrocephalus, Macrocephaly, Mitral regurgitation,... |
OMIM:603387 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Downslanted palpebral fissures, Hyperactivity, Precocious puberty, Hypogonadism, Epicanthus, Syno... |
ORPHA:3306 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Congenital Toxoplasmosis |
|
Anemia, Abnormality of retinal pigmentation, Lymphadenopathy, Thrombocytopenia, Intrauterine grow... |
ORPHA:858 |
Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Cerebellar hypoplasia, Thin corpus callosum, Short finger, Clinodactyly, Syn... |
OMIM:300049 |
Shigellosis |
|
Conjunctivitis, Myocarditis, Arthritis, Microangiopathic hemolytic anemia, Peritonitis, Abscess, ... |
ORPHA:810 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia, Intrauterine growth retardation |
OMIM:617021 |
Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Abnormal platelet function, Pancyt... |
ORPHA:2585 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Recurrent otitis media, Recurrent pneumonia, Nail dy... |
OMIM:617475 |
Pierpont Syndrome |
|
Short toe, Abnormal cortical gyration, Primary microcephaly, Short finger, Excessive wrinkling of... |
ORPHA:487825 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Anophthalmia, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin, Neutropenia, Short stature |
OMIM:610798 |
Cornelia De Lange Syndrome |
|
Synophrys, Hypoplastic labia majora, Primary amenorrhea, Thick eyebrow, Hypoplasia of penis, Comp... |
ORPHA:199 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... |
ORPHA:2930 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytos... |
ORPHA:86839 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Smith-Kingsmore Syndrome |
|
Downslanted palpebral fissures, Curly hair, Cafe-au-lait spot, Rhizomelia, Cryptorchidism, Thromb... |
OMIM:616638 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Avian Influenza |
|
Conjunctivitis, Leukopenia, Myelitis, Infectious encephalitis, Hepatitis, Lymphopenia, Thrombocyt... |
ORPHA:454836 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion, Dysphagia |
ORPHA:411777 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Hydrocephal... |
OMIM:613153 |
Adducted Thumbs Syndrome |
|
Cleft palate, Velopharyngeal insufficiency, High palate, High, narrow palate |
OMIM:201550 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
Diamond-Blackfan Anemia 10 |
|
Anemia, Steroid-responsive anemia, Reticulocytopenia, Short stature, Growth delay, Macrocytic anemia |
OMIM:613309 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Impaired platelet aggr... |
OMIM:614072 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascul... |
OMIM:617388 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thro... |
OMIM:613101 |
Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:275350 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Autoimmune hemolytic anemia, R... |
OMIM:616576 |
Hemochromatosis, Type 2A |
|
Arthritis, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Hyperpigmentation of the skin... |
OMIM:602390 |
Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Macrocephaly, Clin... |
ORPHA:3210 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Alopecia, Asplenia, Hypothyroidism, Hyperthyroidism, Keratoconjunctivitis, Hepatitis, Ty... |
OMIM:269200 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... |
OMIM:157900 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Thin corpus callosum, Camptodactyly, Down-sloping shoulders, Microphthalmia, Microcephaly, Cubitu... |
OMIM:619694 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Thrombocytopenia, Cataract |
ORPHA:67048 |
Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... |
OMIM:618779 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Generalized hypopigmentation, Ocular albinism, Short stature, Iris hypopigmentation, Abnormality ... |
ORPHA:2720 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Conjunctivitis, Leukopenia, Anemia, Telecanthus, Epicanthus, Long eyelashes, Abnormality of retin... |
ORPHA:505248 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Cerebellar hypoplasia, Hydrocep... |
ORPHA:163966 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Anemia, Corneal erosion, Entropion, Dysphagia, Thrombocytopenia, Neutropenia, Abn... |
ORPHA:537 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Xeroderma Pigmentosum, Complementation Group C |
|
Conjunctivitis, Hypopigmentation of the skin, Entropion, Freckling, Ectropion, Keratitis |
OMIM:278720 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
Sengers Syndrome |
|
Thrombocytopenia, Growth delay, Developmental cataract |
OMIM:212350 |
Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Anophthalmia, Abnormal finger morphology, Abnormal cortical gyration, Abnormal... |
ORPHA:2538 |
Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Hyperin... |
ORPHA:2968 |
Nail-Patella Syndrome |
|
Biceps aplasia, Patellar hypoplasia, Patellar aplasia, Hypoplastic radial head, Spina bifida, Ili... |
OMIM:161200 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Anemia, Hypothyroidism, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Eczema,... |
OMIM:304790 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Short stature, Keratoconjunctivitis sicca, Fine hair, Microcorn... |
ORPHA:1806 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Cafe-au-lait spot, Reticulocytopenia, Short stature, Pancytopenia, Hypergonadotropic hypo... |
OMIM:600901 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Corneal erosion, Keratoconjunctivitis sicca, Chemosis, Pneumonia, Skin rash, Hyperpigmentation of... |
ORPHA:95455 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th finger, Brachydactyly... |
OMIM:618914 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Nephronophthisis 15 |
|
Polydactyly, Cerebellar vermis hypoplasia |
OMIM:614845 |
Pierpont Syndrome |
|
Short toe, Short foot, Short finger, Microphthalmia, Microcephaly, Deep palmar crease, Short palm... |
OMIM:602342 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Adams-Oliver Syndrome 2 |
|
Cerebellar hypoplasia, Hydrocephalus, Macrocephaly, Single transverse palmar crease, Absent dista... |
OMIM:614219 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Pancytopenia, Postnatal growth retardation |
OMIM:600546 |
Mixed Connective Tissue Disease |
|
Alopecia, Leukopenia, Hemolytic anemia, Skin rash, Arthritis, Keratoconjunctivitis sicca, Pericar... |
ORPHA:809 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
Hypertrichosis Lanuginosa Congenita |
|
Thick eyebrow, Abnormality of skin pigmentation, Generalized hirsutism |
ORPHA:2222 |
Meckel Syndrome, Type 10 |
|
Cerebellar hypoplasia, Anencephaly, Camptodactyly, Dandy-Walker malformation, Postaxial foot poly... |
OMIM:614175 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis, Cholelithiasis |
OMIM:224100 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Occip... |
OMIM:614815 |
Xq25 Microduplication Syndrome |
|
Sparse eyebrow, Hyperactivity, Short stature, Epicanthus, Abnormality of the palpebral fissures, ... |
ORPHA:521258 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Short stature, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
Nijmegen Breakage Syndrome |
|
Progressive vitiligo, Hyperactivity, Cafe-au-lait spot, T lymphocytopenia, B lymphocytopenia, Bro... |
OMIM:251260 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anemia, Abnormality of skin pigmentation, Abnormality of the subungual region, Growth delay, Gast... |
ORPHA:79411 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
Familial Cold Urticaria |
|
Conjunctivitis, Arthritis, Polydipsia |
ORPHA:47045 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Cafe-au-lait spot, Hypogonadism, Short stature, Congenital bilateral ptosis, Sever... |
ORPHA:73272 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Alopecia, Short stature, Fragile nails, Erythroderma, Keratoconus, Sparse hair |
OMIM:242150 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Cerebellar hypopl... |
OMIM:610758 |
Nephrotic Syndrome, Type 7 |
|
Glomerulonephritis, Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Abnorm... |
OMIM:617052 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Short stature, Epicanthus, Hypopigmentation of h... |
OMIM:618541 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Skin rash, Stomatitis, Growth delay, Neutropenia, Intrauterine growth retar... |
ORPHA:79284 |
Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Menorrhag... |
OMIM:619172 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Short palm, Hypertension |
ORPHA:79094 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Syringomyelia, Phocomelia, Ta... |
OMIM:274000 |
Joubert Syndrome 10 |
|
Macrocephaly, Postaxial polydactyly, Cerebellar vermis hypoplasia |
OMIM:300804 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Short stature, Pancytopenia, Bone marrow hypocellularity, Thrombo... |
OMIM:616435 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Hyperinsulinemia, Gonadotropin deficiency, Decreased response to gr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Hyperinsulinemia, Gonadotropin deficiency, Decreased response to gr... |
ORPHA:71526 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal palmar dermatoglyphics, Finger syndactyly, Spina bifida, Toe sy... |
ORPHA:2092 |
Fanconi Anemia, Complementation Group P |
|
Short palpebral fissure, Anemia, Cafe-au-lait spot, Short stature, Blepharophimosis, Pancytopenia... |
OMIM:613951 |
Omenn Syndrome |
|
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphade... |
OMIM:603554 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Proximal placement of thumb, Abnormal metaphysis morphology, Abnormal epiphysis m... |
ORPHA:93267 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Anemia, Abnormality of skin pigmentation, Bilateral ptosis, Short stature, Decreased te... |
OMIM:620040 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng... |
ORPHA:199306 |
Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Macrocephaly, Epiphyseal dysplasia, Flatt... |
OMIM:607131 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus... |
OMIM:615249 |
Hemochromatosis, Type 1 |
|
Alopecia, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogon... |
OMIM:235200 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Menorrhagia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Menorrhagia |
OMIM:613554 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutropenia |
OMIM:616738 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Atopic dermatitis, Fingernail dysplasia, Thin nail, Nail pits, Circumungual hy... |
ORPHA:79153 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Conju... |
OMIM:194380 |
Meckel Syndrome |
|
Preaxial hand polydactyly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:564 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of ... |
ORPHA:79477 |
Lig4 Syndrome |
|
Hypothyroidism, Pancytopenia, Psoriasiform dermatitis, Cryptorchidism, Thrombocytopenia, Micropen... |
OMIM:606593 |
48,Xxyy Syndrome |
|
Epicanthus, Blepharophimosis, Decreased testicular size, Infertility, Type II diabetes mellitus, ... |
ORPHA:10 |
De Sanctis-Cacchione Syndrome |
|
Conjunctivitis, Entropion, Bilateral cryptorchidism, Severe short stature, Ectropion, Hypermelano... |
OMIM:278800 |
Noonan Syndrome 4 |
|
High anterior hairline, Sparse eyebrow, Curly hair, Downslanted palpebral fissures, Bilateral pto... |
OMIM:610733 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
Monosomy 5P |
|
Finger syndactyly, Small hand, Microcephaly |
ORPHA:281 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons... |
OMIM:601775 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Anophthalmia, Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Hydro... |
ORPHA:3412 |
Sclerosteosis |
|
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly |
ORPHA:3152 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Anemia, Cafe-au-lait spot, Decreased response to growth hormone stimulation test, Sho... |
OMIM:603467 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Anemia, Short stature, Epicanthus, Normocytic anemia, Ptosis, Cholecystitis, Dela... |
OMIM:611881 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Preaxial hand polydactyly, Short 5th finger, Spina bifida, Broad phalanx, Per... |
ORPHA:508498 |
Caudal Duplication |
|
Spina bifida, Spinal cord lesion, Myelomeningocele |
ORPHA:1756 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Optic nerve ... |
OMIM:605627 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Abnormality of the upper limb, Encephalocele, Finger syndactyly,... |
ORPHA:974 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Spina bifida, Hydrocephalus, Macrocephaly, Down-s... |
OMIM:109400 |
Lacrimal Duct Defect |
|
Conjunctivitis, Dacryocystitis, Dacryocystocele, Sinusitis, Lacrimal duct atresia |
OMIM:149700 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... |
OMIM:113000 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Spina bifida, Biparietal narrowing, Hip dislocation, Dandy-Walker malfor... |
ORPHA:99776 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia, Impotence, Dysphagia |
OMIM:615750 |
Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Intracranial hemorrhage, ... |
OMIM:614424 |
Nasolacrimal Duct Cyst |
|
Dacryocystitis, Red eye, Narrow palpebral fissure, Chronic irritative conjunctivitis, Dacryocysto... |
ORPHA:141083 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Mirage Syndrome |
|
Leukopenia, Anemia, Aspiration pneumonia, Short stature, Shawl scrotum, Decreased testicular size... |
OMIM:617053 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Enterocolitis, Short stature, Skin rash, Pancytopenia,... |
OMIM:616050 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Intrauterine growth retardation, Eczema, Dysphagia |
OMIM:619751 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic monilial nail infection, Keratoconjunctivitis, Corneal neovascularization, Chro... |
OMIM:158310 |
Toriello-Lacassie-Droste Syndrome |
|
Short palpebral fissure, Abnormal conjunctiva morphology, Epicanthus, Blepharophimosis, Limbal de... |
ORPHA:3339 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Short stature, Bl... |
OMIM:227646 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Short stature, External genital hypoplasia, Congenital abnormal hair pattern, Spotty hy... |
ORPHA:1867 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Ap... |
ORPHA:1926 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Microcephaly, Hypoplastic ischia |
OMIM:616910 |
Periodic Fever, Familial, Autosomal Dominant |
|
Conjunctivitis, Oligoarthritis, Skin rash, Erysipelas, Myositis, Cervical lymphadenopathy, Maculo... |
OMIM:142680 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Abnormal shoulder morphology |
ORPHA:2345 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Chromosome Xq13 Duplication Syndrome |
|
Short palpebral fissure, Hyperactivity, Medial flaring of the eyebrow, Sparse lateral eyebrow, Ep... |
OMIM:301069 |
Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, Eosinophilia, Impaired oxidative ... |
OMIM:226990 |
Dubowitz Syndrome |
|
Epicanthus, Acute lymphoblastic leukemia, Eczema, Hypoparathyroidism, Thrombocytopenia, Telecanth... |
ORPHA:235 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syndactyly, Anopht... |
ORPHA:264200 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Eczema |
OMIM:614493 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia, Nephritis |
ORPHA:3327 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Absent distal phalanges, Small hand, 2-5 finger cutaneous syndactyly |
OMIM:619339 |
Kearns-Sayre Syndrome |
|
Short stature, Sideroblastic anemia, Primary adrenal insufficiency, Ptosis, Diabetes mellitus, Hy... |
OMIM:530000 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Short stature, Adrenal ins... |
OMIM:609981 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Biotinidase Deficiency |
|
Conjunctivitis, Alopecia, Skin rash, Recurrent skin infections, Splenomegaly, Seborrheic dermatitis |
OMIM:253260 |
Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... |
ORPHA:754 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Spina bifida, Porencephalic cyst, Clinodactyly of the 5th finger, ... |
ORPHA:1393 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Menorrhagia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induce... |
OMIM:231200 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Hemolytic anemia, Arthritis, Nephritis, Pericarditis, Lupus nephritis, Th... |
OMIM:152700 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Lip pit, Non-midline cleft lip |
ORPHA:1072 |
Gand Syndrome |
|
Hyperactivity, Blepharophimosis, Tics, Narrow palpebral fissure, Sparse hair |
OMIM:615074 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... |
OMIM:617914 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper limb, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:3380 |
Abcd Syndrome |
|
Albinism, White eyelashes, White eyebrow, Polycythemia |
OMIM:600501 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Thro... |
ORPHA:507 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Foot polydactyly, Porencephalic cyst, Short finger, Hand polydactyly... |
OMIM:258860 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper ... |
ORPHA:88630 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Prostate cancer, Acute lymphob... |
ORPHA:158057 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia |
ORPHA:2547 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Cerebral ischemia, Toe syndactyly, Foot ... |
ORPHA:60040 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Microphthalmia, Rocker bottom foot, Microcephaly |
OMIM:610756 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Decreased testicular size, Hypospadias, Cryptorchidism, Intrauter... |
OMIM:610198 |
Bresek Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Postaxial hand polydactyly |
ORPHA:85284 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Malar rash, Coombs-positive hemoly... |
OMIM:603909 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Stt3B-Cdg |
|
Micropenis, Cryptorchidism, Thrombocytopenia, Small scrotum, Intrauterine growth retardation |
ORPHA:370924 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... |
OMIM:150550 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Conjunctival hyperemia, Epicanthus |
OMIM:619548 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Aniridia, Mitral regurgitation,... |
ORPHA:1101 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Ptosis, Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Abnormal eyelid morphology, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:525731 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
Hermansky-Pudlak Syndrome 4 |
|
Albinism, Absent platelet dense granules, Menorrhagia, Ocular albinism |
OMIM:614073 |
Prolidase Deficiency |
|
Anemia, Crusting erythematous dermatitis, Eczema, Ptosis, Recurrent pneumonia, Low posterior hair... |
OMIM:170100 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:98793 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Cryptorchidism, Thrombocytopenia, Small scrotum, Intrauterine growth retardation |
OMIM:615597 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic a... |
OMIM:613011 |
Braddock-Carey Syndrome 1 |
|
Downslanted palpebral fissures, Curly hair, Growth delay, Thrombocytopenia, Sparse hair, Telecanthus |
OMIM:619980 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Alcoholism, Stomatitis, Pancytopenia, Metrorrhagia, Lymphadenopathy, Leukocyt... |
ORPHA:520 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Conjunctival hyperemia, Brittle hair, Absent eyelashes, Alopecia univ... |
ORPHA:2890 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Splenomegaly, Microcytic anemia |
OMIM:618852 |
Xeroderma Pigmentosum, Complementation Group A |
|
Conjunctivitis, Entropion, Ectropion, Hypermelanotic macule, Keratitis |
OMIM:278700 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... |
OMIM:617102 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Decreased response to growth hormone stimulation test, Atopic dermatitis, Lymph... |
OMIM:618624 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Irregular hyperpigmentation, Limbal de... |
ORPHA:2969 |
Cousin Syndrome |
|
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... |
OMIM:260660 |
Phenylketonuria |
|
Hyperactivity, Generalized hypopigmentation, Fair hair, Eczema, Cataract, Attention deficit hyper... |
OMIM:261600 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:177904 |
Hamamy Syndrome |
|
Neck pterygia, Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Blepharoph... |
OMIM:611174 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Type I diabetes melli... |
OMIM:301078 |
Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly |
ORPHA:1406 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Albinism, Giant melanosomes in melanocytes |
OMIM:300650 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:177901 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... |
ORPHA:79239 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Bronchiectasis, B lymphocytopenia, Recurrent sinusitis, Recurrent otitis media, R... |
OMIM:601495 |
Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Lissencephaly, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Dysplastic corpus callosum, ... |
OMIM:614833 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Relative macrocephaly, Clinodactyly of the 5th finger, Upper limb asymmetry |
ORPHA:231140 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Temtamy Syndrome |
|
Thick corpus callosum, Agenesis of corpus callosum, Hip dislocation, Aortic regurgitation, Short ... |
OMIM:218340 |
Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Dan... |
ORPHA:63259 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Horizontal eyebrow, Chronic monilial nail infection, Onychog... |
ORPHA:294023 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Growth delay, Thrombocytopenia, Neutropenia, Pancreatitis |
ORPHA:289916 |
Ritscher-Schinzel Syndrome 2 |
|
Cerebellar hypoplasia, Clinodactyly, Camptodactyly, Macrocephaly, Overlapping toe, Broad hallux, ... |
OMIM:300963 |
Transaldolase Deficiency |
|
Anemia, Thrombocytopenia, Abnormality of the clitoris, Hepatosplenomegaly |
ORPHA:101028 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Clinodactyly of the 2nd finger, Abnormally large globe, Short fo... |
ORPHA:363417 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity |
OMIM:248510 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Cryptorchidism, Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Coxa valga, Joint contracture of the hand, Cerebellar hypoplasia, Elbow flexion contracture, Agen... |
OMIM:214150 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Upslanted palpebral fissure, Short stature, Epicanthus, Iris coloboma, Cataract, ... |
OMIM:607906 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Cataract, Ptosis, Corneal opa... |
ORPHA:1067 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Absent pubic hair, Blind vagina, Primary amenorrhea, Testicul... |
ORPHA:99429 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Agenesis of corpus callosum, Lissencephaly, Overlapping toe, Preaxial polydactyly, Microcephaly, ... |
OMIM:618142 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Aplasia/Hypoplasia of the corpus callosum, Aqueductal stenosis, Humero... |
OMIM:251230 |
Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:100026 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Growth delay, Short stature |
OMIM:614727 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephritis, Parotitis, Ly... |
ORPHA:289390 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Telecanthus, Epicanthus, Coarse hair, Synophrys, Long eyelashes, Nephritis, R... |
OMIM:617303 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Fair hair, Diabetes mellitus, Hypospadias, Blue irides, Congenital hypothyroidism,... |
OMIM:614613 |
Myh9-Related Disease |
|
Presenile cataracts, Nephritis, Menorrhagia, Giant platelets, Congenital thrombocytopenia, Neutro... |
ORPHA:182050 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Chromosome Xq25 Duplication Syndrome |
|
Sparse eyebrow, Hyperactivity, Short stature, Epicanthus, Thick eyebrow, Highly arched eyebrow |
OMIM:300979 |
Lassa Fever |
|
Conjunctivitis, Menometrorrhagia, Dysphagia |
ORPHA:99824 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, External g... |
ORPHA:398079 |
Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis, Thrombocytopenia |
OMIM:188025 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:98754 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia, Pigmentary retinopathy |
OMIM:277400 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Decreased proportion of naive CD8 T cells, Abnormality of thyroid physiology, Short statu... |
ORPHA:1830 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Macrocephaly, Microcephaly, Brachydactyly |
ORPHA:313781 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Branchial anomaly, Anopht... |
ORPHA:2162 |
Good Syndrome |
|
Thymoma, Anemia, Bronchiectasis, Aplasia/Hypoplasia of the thymus, Ptosis, Diabetes mellitus, Sin... |
ORPHA:169105 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Toe syndactyly, Spina bifida occulta, Postaxial ha... |
OMIM:305600 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Amish Lethal Microcephaly |
|
Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:99742 |
Joubert Syndrome 23 |
|
Polydactyly, Dysplastic corpus callosum |
OMIM:616490 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Abnormal vagina morphology |
ORPHA:2123 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Melanocytic nevus, Short stature, Antecubital pterygium, Unilateral cryptorc... |
OMIM:616489 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... |
ORPHA:3437 |
Transaldolase Deficiency |
|
Anemia, Synophrys, Pancytopenia, Hepatosplenomegaly, Intrauterine growth retardation, Thrombocyto... |
OMIM:606003 |
Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
Cat-Eye Syndrome |
|
Hip dysplasia, Microphthalmia |
ORPHA:195 |
Immunodeficiency 7 |
|
Hypereosinophilia, Chronic oral candidiasis, Recurrent otitis media, Autoimmune hemolytic anemia,... |
OMIM:615387 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion contracture, Absent... |
ORPHA:1692 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Testicular atrophy, Frontal balding, Cataract, Dysphagia, Cholelithiasis, Obsessive... |
OMIM:160900 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Conjunctivitis, Corneal erosion, Ptosis, Cataract, Diabetes mellitu... |
ORPHA:33001 |
Birk-Barel Syndrome |
|
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion |
OMIM:612292 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
Preeclampsia |
|
Type I diabetes mellitus, Thrombocytopenia, Polycystic ovaries, Intrauterine growth retardation |
ORPHA:275555 |
Sandestig-Stefanova Syndrome |
|
Primary microcephaly, Clinodactyly, Camptodactyly, Microphthalmia, Bilateral single transverse pa... |
OMIM:618804 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation, Syringomyelia |
ORPHA:404451 |
Babesiosis |
|
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Syndactyly, Toe clinodact... |
OMIM:300244 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Microphthalmia, Cerebellar hypoplasia |
OMIM:613730 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Intrauterine growth retardation |
OMIM:610333 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Stomatitis, Growth delay, Intrauterine growth retardation, Thrombocytopenia... |
ORPHA:79282 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... |
ORPHA:59315 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemolytic anemi... |
OMIM:235700 |
Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Syndactyly, Holoprosencephaly, Narrow palm, Microcephaly |
ORPHA:1445 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
Diamond-Blackfan Anemia 21 |
|
Downslanted palpebral fissures, Horizontal eyebrow, Anemia, Short stature, Synophrys, Widow's pea... |
OMIM:620072 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of toe, Biparietal narrowing, Macrocephaly, Microphthalmia, Sandal ... |
ORPHA:251038 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, P... |
ORPHA:370959 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Abnormal eyelid morphology, Fine hair, Hypopigmentation of hair, Lym... |
ORPHA:2221 |
Fanconi Anemia |
|
Abnormal testis morphology, Epicanthus, Aplasia/Hypoplasia of the iris, Multiple cafe-au-lait spo... |
ORPHA:84 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Generalized bronze hyperpigmentation, Arthritis, Infertility, Erectile dysfunctio... |
ORPHA:465508 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Sheehan Syndrome |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:91355 |
Wilson Disease |
|
Anemia, Hepatitis, Arthritis, Abnormality of the menstrual cycle, Acute hepatitis, Kayser-Fleisch... |
ORPHA:905 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Downslanted palpebral fissures, Small nail, Short stature, Intrauterine growth retard... |
OMIM:301056 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th finger, H... |
ORPHA:1352 |
Granulomatosis With Polyangiitis |
|
Conjunctivitis, Granulomatosis, Uveitis, Sinusitis, Episcleritis, Keratitis, Chronic otitis media |
OMIM:608710 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Microphthalmia |
ORPHA:48431 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Epicanthus, Iris hypopigmentation, Decreased circulat... |
ORPHA:398073 |
Orofaciodigital Syndrome Xix |
|
Lobulated tongue, High palate, Narrow palate, Cleft soft palate, Tongue nodules, Microdontia, Hyp... |
OMIM:620107 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Joint contracture of the hand, Primary microcephaly, Spina bifida, Short umbil... |
OMIM:256520 |
Sarcoidosis |
|
Abnormal lymph node morphology, Hypothyroidism, Abnormal conjunctiva morphology, Bronchiectasis, ... |
ORPHA:797 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... |
OMIM:617926 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5th finger, Dow... |
ORPHA:1520 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Short toe, Broad femoral neck, Cardiomyopathy, Avascular necrosis of the... |
OMIM:212720 |
Lead Poisoning |
|
Tubulointerstitial nephritis, Abnormal T cell morphology, Anemia, Decreased female libido, Skin r... |
ORPHA:330015 |
Monosomy 18P |
|
Hypertension, Holoprosencephaly, Microcephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
Thyrocerebroretinal Syndrome |
|
Goiter, Thrombocytopenia, Nephritis |
OMIM:274240 |
Alazami Syndrome |
|
Short palpebral fissure, Sparse eyebrow, Abnormality of the orbital region, Stereotypical hand wr... |
ORPHA:319671 |
Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
Limb Body Wall Complex |
|
Duplication of hand bones, Encephalocele, Myelomeningocele, Forearm reduction defects, Cutaneous ... |
ORPHA:2369 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... |
ORPHA:392 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Nail dysplasia, Lymphadenopathy, Thrombocyto... |
OMIM:612783 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Warburg Micro Syndrome 2 |
|
Global brain atrophy, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Overlapping toe, ... |
OMIM:614225 |
Frontorhiny |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cranium bifidu... |
ORPHA:391474 |
Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
Baraitser-Winter Syndrome 2 |
|
Lissencephaly, Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum |
OMIM:614583 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Short stature, Lymphadenopathy, Bone-marrow foam cells, Microcytic anemia... |
OMIM:257200 |
Microsporidiosis |
|
Brain abscess, Prostatitis, Myositis, Decreased proportion of CD4-positive helper T cells, Pneumo... |
ORPHA:2552 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyebrow, Abnormality of skin pigmentation, Sparse scalp hair, Short stature, Epicanthus, T... |
ORPHA:75496 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Short stature, Hypopituitarism, Hepatosplenomegaly, Microcytic anemia |
OMIM:619013 |
Farber Disease |
|
Abnormal conjunctiva morphology, Anemia, Short stature, Arthritis, Opacification of the corneal s... |
ORPHA:333 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function, Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
Frontofacionasal Dysplasia |
|
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Short stature, Blepharophimosis, Limbal derm... |
ORPHA:1791 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Skin rash, Anemia of inadequate production, Splenomegaly, Allergic rhinitis |
OMIM:612714 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hyperpigmentation of the skin, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
Sirenomelia |
|
Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia |
ORPHA:3169 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Cholelithiasis |
ORPHA:79278 |
Joubert Syndrome 7 |
|
Genu valgum, Hypoplasia of the brainstem, Encephalocele, Abnormal corpus callosum morphology, Pos... |
OMIM:611560 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Lymphopenia, Ptosis, Cryptorchidism, Hyperpi... |
OMIM:617575 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Rotor Syndrome |
|
Conjunctival icterus |
ORPHA:3111 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Macroce... |
OMIM:614643 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Mogs-Cdg |
|
Short palpebral fissure, Alopecia, Hypothyroidism, Fair hair, External genital hypoplasia, Long e... |
ORPHA:79330 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Cataract, Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism |
ORPHA:36913 |
Coffin-Siris Syndrome 2 |
|
Absent fifth fingernail, Hyperactivity, Small nail, Sparse scalp hair, Short stature, Long eyelas... |
OMIM:614607 |
Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Syndactyly, Holoprosencephaly, Mitral regurgitation, Microphthalmia, ... |
OMIM:619879 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Downslanted palpebral fissures, Short stature, Epicanthus, Recurrent hand flapping, Persistence o... |
OMIM:617101 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... |
ORPHA:739 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Short stature, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Reynolds Syndrome |
|
Irregular hyperpigmentation, Skin rash, Arthritis, Keratoconjunctivitis sicca, Dysphagia, Infecti... |
ORPHA:779 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Sh... |
ORPHA:2994 |
Mohr Syndrome |
|
Metaphyseal irregularity, Preaxial hand polydactyly, Preaxial foot polydactyly, Partial duplicati... |
OMIM:252100 |
Wiedemann-Steiner Syndrome |
|
Epicanthus, Synophrys, Eversion of lateral third of lower eyelids, Thick eyebrow, Postnatal growt... |
OMIM:605130 |
Gracile Bone Dysplasia |
|
Slender long bone, Hydrocephalus, Flared metaphysis, Microphthalmia, Brachydactyly, Aniridia |
OMIM:602361 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Corpus callosum atrophy, Diffuse cerebral atrophy, Microcephaly |
ORPHA:77299 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, External g... |
ORPHA:398069 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hip dysplasia, Agenesis of corpus callosum, Hydrocephalus, Deviation of the 5th finger, Broad hal... |
OMIM:616362 |
Neurooculocardiogenitourinary Syndrome |
|
Abnormality of the palmar creases, Secondary microcephaly, Microphthalmia, Tricuspid regurgitation |
OMIM:618652 |
Mevalonic Aciduria |
|
Downslanted palpebral fissures, Anemia, Short stature, Skin rash, Morbilliform rash, Attenuation ... |
OMIM:610377 |
Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Corneal arcus, Arthritis, Reticulocytosis, Impaired platelet aggregation,... |
OMIM:210250 |
3P25.3 Microdeletion Syndrome |
|
Tapered finger, 2-3 finger syndactyly, Congenital pseudoarthrosis of the clavicle, Broad hallux, ... |
ORPHA:435638 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Sparse lateral eyebrow, Epicanthus, Tics, Recurrent hand flapping, Recurrent otitis media, Unilat... |
OMIM:617788 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Clinodactyly of the 5th f... |
OMIM:236500 |
Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Large clumps of pigment irregularly distributed along hair shaft, Spotty h... |
ORPHA:167 |
Holoprosencephaly 9 |
|
Anophthalmia, Abnormal cortical gyration, Hydrocephalus, Optic nerve hypoplasia, Holoprosencephal... |
OMIM:610829 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Ectopic lacrimal punctum, Lipomas of eyelids, Absent lacrimal punctum, Widow's pe... |
OMIM:167730 |
Pseudohypoparathyroidism Type 1C |
|
Conjunctivitis, Decreased response to growth hormone stimulation test, Short stature, Reduced cir... |
ORPHA:79444 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hypospadias, Hydrocele testis, Microcytic anemia |
OMIM:618972 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Tapered finger, Pulmonic stenosis, Anencephaly, Agenesis of corpus callosum, Campt... |
OMIM:619148 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hyperactivity, Iris hypopigmentation, Hypopigmentation of hair, Pol... |
ORPHA:411515 |
Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Conjunctival icterus, Hemolytic anemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Conjunctival icterus, Hemolytic anemia |
ORPHA:529799 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral ... |
OMIM:607597 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism, Hyperactivity, Astigmatism, Attention deficit hyperactivity disorder, Motor tics,... |
OMIM:619927 |
Weaver Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Macrocephaly, Broad thumb, Sandal gap, Abnormal metap... |
ORPHA:3447 |
Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Postaxial foot polydacty... |
OMIM:264480 |
Listeriosis |
|
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit... |
ORPHA:533 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Microcephaly, Arachnodactyly |
OMIM:619092 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Cholelithiasis, Thrombocytopenia, Intrauterine growth retardation, Normochromic... |
OMIM:618775 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Thin corpus callosum, Broad hallux, Single transverse palmar crease, Microphthalmia, Microcephaly... |
OMIM:614105 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Agel Amyloidosis |
|
Blepharochalasis, Bilateral ptosis, Abnormal spleen morphology, Keratoconjunctivitis sicca, Latti... |
ORPHA:85448 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Synophrys, Impulsivity, Upslanted palpebral fissure |
OMIM:300143 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Pelger-Huet Anomaly |
|
Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Recurrent otitis media... |
OMIM:169400 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb, Abnormal thumb morphology |
ORPHA:1825 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyebrow, Recurrent bacterial skin infections, Keratitis, Corneal scarring, Keratoconjuncti... |
OMIM:148210 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Cyclic Neutropenia |
|
Enterocolitis, Perianal abscess, Periodontitis, Peritonitis, Decreased eosinophil count, Lymphope... |
ORPHA:2686 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Throm... |
OMIM:308240 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters |
OMIM:619817 |
Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia... |
ORPHA:514 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Short foot, Finger syndactyly, Toe syndacty... |
ORPHA:93258 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly |
OMIM:617883 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia |
OMIM:105600 |
Albinism, Oculocutaneous, Type V |
|
Albinism |
OMIM:615312 |
Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis |
ORPHA:54057 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Decreased female libido, Sparse axillary hair, Normocyti... |
ORPHA:95409 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Chromomycosis |
|
Keratoconjunctivitis sicca, Eyelid retraction, Hypopigmented skin patches, Ectropion, Keratitis |
ORPHA:182 |
Aggressive Systemic Mastocytosis |
|
Anemia, Maculopapular exanthema, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy... |
ORPHA:98850 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Brittle hair, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Premature graying of hair, Short stature, Fine hair, Retinal telangiectasia, Nail dysplas... |
OMIM:612199 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... |
OMIM:609945 |
Hallermann-Streiff Syndrome |
|
Pulmonary arterial hypertension, Telangiectasia, Spina bifida, Slender long bone, Hypertension, A... |
OMIM:234100 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Broad hallux, Syndactyly, Broad thumb, Microcephaly, Promi... |
OMIM:613684 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Short stature |
OMIM:231000 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Growth delay, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Camptodactyly, Syndactyly, Split foot, Split hand |
OMIM:603543 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Broad thumb, Microceph... |
OMIM:619721 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Hand clenching, Anophthalmia, Talipes equinovarus, Radioulnar synostosis, Dan... |
OMIM:300166 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Shoulder dislocation, Absent thumb, Radial deviation of the hand, Aplasia of... |
OMIM:607323 |
Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Geophagia, Concave nail, Dysphagia, Iron deficiency anemia, Cheilitis |
ORPHA:54028 |
Crimean-Congo Hemorrhagic Fever |
|
Conjunctivitis, Leukopenia, Erythema nodosum, Adrenal insufficiency, Neutrophilia, Morbilliform r... |
ORPHA:99827 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
Campomelic Dysplasia |
|
Short phalanx of finger, Spinal dysraphism, Hallux valgus, Hip dislocation, Metatarsus adductus, ... |
OMIM:114290 |
Pseudohypoparathyroidism Type 1A |
|
Conjunctivitis, Decreased response to growth hormone stimulation test, Short stature, Abnormal pl... |
ORPHA:79443 |
Bloom Syndrome |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Decreased proportion of CD4-positive T cell... |
ORPHA:125 |
Aland Island Eye Disease |
|
Albinism, Astigmatism |
OMIM:300600 |
Nijmegen Breakage Syndrome |
|
Abnormal eyelid morphology, Hemolytic anemia, Short stature, Autoimmune hemolytic anemia, Freckli... |
ORPHA:647 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Developmental And Epileptic Encephalopathy 1 |
|
Global brain atrophy, Microphthalmia, Microcephaly |
OMIM:308350 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Abnormal repetitive mannerisms, Almond-shaped palpebral fissure, ... |
ORPHA:529965 |
Aarskog-Scott Syndrome |
|
Downslanted palpebral fissures, Short stature, Shawl scrotum, Widow's peak, Bilateral cryptorchid... |
OMIM:305400 |
Kawasaki Disease |
|
Conjunctivitis, Hepatitis, Skin rash, Arthritis, Abnormality of nail color, Pericarditis, Ptosis,... |
ORPHA:2331 |
Hereditary Acrokeratotic Poikiloderma |
|
Dystrophic toenail, Irregular hyperpigmentation, Keratoconjunctivitis, Abnormal preputium morphol... |
ORPHA:2907 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Arrhinencephaly, Radioulnar synostosis, Abnormal pelvic g... |
ORPHA:1788 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Short palpebral fissure, Long eyelashes, Intrauterine growth retardation, Decreased hemoglobin co... |
OMIM:619005 |
Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Arrhinencephaly, Central Y-... |
OMIM:277170 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Slc35A1-Cdg |
|
Pneumonia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Global brain atrophy, Microphthalmia, Microcephaly, Cere... |
OMIM:616920 |
Myopathy With Lactic Acidosis, Hereditary |
|
Leukopenia, Anemia, Sideroblastic anemia, Bilateral ptosis |
OMIM:255125 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Metatarsal synostosis, Oligodactyly, Promin... |
ORPHA:2756 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Osteomyelitis, Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis, Chronic rhinit... |
OMIM:259710 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Chronic otitis media, Bone marrow hypocellularity, Le... |
ORPHA:3226 |
Bloom Syndrome |
|
Decreased fertility in females, Malar rash, Hypopigmentation of the skin, Cafe-au-lait spot, Bron... |
OMIM:210900 |
Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly |
OMIM:614615 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Eczema, Congenital adrenal hyperplasia, Thr... |
ORPHA:96181 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Growth delay, Thick hair |
ORPHA:263501 |
1Q21.1 Microdeletion Syndrome |
|
Toe syndactyly, Foot polydactyly, Agenesis of corpus callosum, Hydrocephalus, Hand polydactyly, C... |
ORPHA:250989 |
Trisomy 20P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Spina bifida, Brachydactyl... |
ORPHA:261318 |
Microphthalmia, Syndromic 6 |
|
Polydactyly, Contracture of thumb, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus ca... |
OMIM:607932 |
Blue Rubber Bleb Nevus |
|
Skin rash, Microcytic anemia |
ORPHA:1059 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
Isolated Congenital Alacrima |
|
Conjunctivitis, Corneal erosion, Lacrimal punctal atresia, Lacrimal gland hypoplasia, Ptosis, Dis... |
ORPHA:91416 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Lym... |
OMIM:618048 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Tapered finger, Short foot, Finger syndactyly... |
ORPHA:251014 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flat acetabular roof, Hemiatrophy of upper limb, Abnormal f... |
ORPHA:163649 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... |
OMIM:617412 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Cerebellar hypoplasia, Spina bifida, Macrogyria, Cerebral calcificati... |
ORPHA:2671 |
Arboleda-Tham Syndrome |
|
Conjunctivitis, Lacrimal duct stenosis, Recurrent aspiration pneumonia, Epicanthus, Thin eyebrow,... |
OMIM:616268 |
Crouzon Syndrome |
|
Conjunctivitis, Keratitis, Shallow orbits, Dysgerminoma |
OMIM:123500 |
Fetal Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Ectropion, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
4Q21 Microdeletion Syndrome |
|
Synophrys, Long eyelashes, Abnormal repetitive mannerisms, Ptosis, Growth delay, Generalized hirs... |
ORPHA:238750 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Genu valgum, Flexion contracture of the 2nd toe, Radioulnar synostosis, Flexi... |
ORPHA:2712 |
Joubert Syndrome 21 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Hypoplasia of the brainstem, Anophtha... |
OMIM:615636 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Anemia, Decreased circulating T4 concentration, Cryptorchidism, Thrombocytopenia,... |
OMIM:608104 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Leukopenia, Malar rash, Discoid lupus rash, Skin rash, Microangiopathic hemolytic anemi... |
ORPHA:93552 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Short stature, Epicanthus, ... |
OMIM:615286 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
Neonatal Lupus Erythematosus |
|
Malar rash, Anemia, Maculopapular exanthema, Neutropenia, Hemolytic anemia, Skin rash, Pancytopen... |
ORPHA:398124 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615994 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Aicardi Syndrome |
|
Cavum septum pellucidum, Spina bifida, Cerebellar vermis hypoplasia, Partial agenesis of the corp... |
OMIM:304050 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Tapered finger, Sandal gap |
ORPHA:1438 |
Prader-Willi Syndrome |
|
Precocious puberty, Adrenal insufficiency, Iris hypopigmentation, Primary amenorrhea, Frontal ups... |
OMIM:176270 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Finger clinodactyly, Cutaneous... |
OMIM:272440 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypothyroidism, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Anemia, Hypogona... |
ORPHA:221008 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Hypothyroidism, Frontal upsweep of hair, Blepharophimosis, Repeti... |
ORPHA:391372 |
Incontinentia Pigmenti |
|
Breast aplasia, Supernumerary nipple, Nail dysplasia, Eosinophilia, Coarse hair, Sparse hair, Alo... |
OMIM:308300 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Epicanthus, Hyperopic astigmatism, Tics, Narrow palpebral fissure, Long palpebral ... |
ORPHA:363686 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Osteomyelitis, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Synostosis of carpal bones, Microphthalmia, Bilateral single transverse palmar creases |
ORPHA:3191 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Joubert Syndrome 37 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Postaxial polydactyly, Cerebellar vermis hypop... |
OMIM:619185 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Downslanted palpebral fissures, Anemia, Rhizomelia, Short stature, Hypospadias, Cryptorchidism, G... |
OMIM:611209 |
Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Cerebellar hypoplasia, Hip dysplasia, Camptodactyly, Microphthalmi... |
OMIM:611961 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Eczema, Hypopigmentation of hair, Cataract, Attention deficit hyper... |
ORPHA:79254 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Clubbing of fingers, Internal hemorrhage |
ORPHA:335 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Hypoplasia of the radius, Optic nerve hypoplasia, Absent sept... |
OMIM:609053 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... |
ORPHA:137902 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Postaxial hand polydactyly, Postaxial po... |
OMIM:217085 |
Ivic Syndrome |
|
Limited interphalangeal movement, Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limi... |
OMIM:147750 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Juvenile rheumatoid arthritis, Hepatitis, Lymphadenop... |
ORPHA:158061 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Entropion, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract, Ectr... |
OMIM:278730 |
Rhabdoid Tumor |
|
Thrombocytopenia, Lymphadenopathy, Anemia |
ORPHA:69077 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly,... |
ORPHA:397590 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Normochromic microcytic anemia, Bilateral cryptorchidism, Repetitive compulsive b... |
ORPHA:66634 |
Marden-Walker Syndrome |
|
Hypoplasia of the brainstem, Joint contracture of the hand, Cerebellar hypoplasia, Inferior cereb... |
OMIM:248700 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Short stature, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Cataract... |
ORPHA:2719 |
Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Microphthalmia, Brachydactyly |
OMIM:614526 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Short statur... |
ORPHA:508542 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Chilblains |
OMIM:612952 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty... |
ORPHA:959 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Crusting erythematous dermatitis, Eczema, Myositis, Gastritis, Colitis, Recurrent... |
ORPHA:37042 |
Relapsing Polychondritis |
|
Conjunctivitis, Alopecia, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Arthritis, Inflamm... |
ORPHA:728 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Anemia, Hemolytic anemia, Impotence, Conjunctival icterus, Abnormal erythrocyte enzym... |
ORPHA:447 |
Jacobsen Syndrome |
|
Short toe, Finger syndactyly, Spina bifida, Toe syndactyly, Long hallux, Macrocephaly, Hip disloc... |
ORPHA:2308 |
Propionic Acidemia |
|
Anemia, Short stature, Eczema, Pancytopenia, Thrombocytopenia, Neutropenia, Pancreatitis |
OMIM:606054 |
Lichen Planopilaris |
|
Alopecia, Hepatitis, Pterygium, Hypopigmented skin patches, Abnormal fingernail morphology, Onych... |
ORPHA:525 |
Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Cryoglobulinemic Vasculitis |
|
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:91138 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, Dental crowding, ... |
OMIM:616331 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Eczema, Recurrent otitis media, Abnormal repetitive mannerisms, Recurrent pneumonia, Hypospadias,... |
ORPHA:500159 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short long bone, Macrocephaly, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs... |
OMIM:615503 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Elevated circulating erythropoietin concentration, Increased hemoglobin, Po... |
OMIM:611783 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Cardiomyopathy, S... |
ORPHA:175 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Agyria, Hydrocephalus, Macrocephaly, Cerebellar vermis hypoplasia, Cerebral calcification, Buphth... |
OMIM:616538 |
9P13 Microdeletion Syndrome |
|
Hypoplastic toenails, Precocious puberty, Cafe-au-lait spot, Short stature, Epicanthus, External ... |
ORPHA:324313 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Finger syndactyly, Clinodactyly, Broad dista... |
ORPHA:464738 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
Baraitser-Winter Syndrome 1 |
|
Lissencephaly, Duplication of phalanx of hallux, Microphthalmia, Microcephaly, Pachygyria, Aortic... |
OMIM:243310 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Downslanted palpebral fissures, Abnormal eyelid morphology, Hypogonadism, Epicanthus, Absence of ... |
ORPHA:2990 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail |
ORPHA:621 |
Jacobsen Syndrome |
|
Epicanthus, Annular pancreas, Labial hypoplasia, Intrauterine growth retardation, Clitoral hypopl... |
OMIM:147791 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Skin rash, Abnormal B cell count, Hepatospleno... |
ORPHA:331206 |
22Q11.2 Duplication Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of the thymus, Abnormal repetitive... |
ORPHA:1727 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bottom foot, Bulbo... |
OMIM:304120 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse eyebrow, Downslanted palpebral fissures, Curly hair, Hyperactivity, Epicanthus, Synophrys,... |
OMIM:620075 |
Mucopolysaccharidosis, Type Ix |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:601492 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Intrauterine growth retardation, Nail dysplasia, Cataract, Coarse hair, Thrombocytopenia, Shallow... |
OMIM:612394 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Hypochromic microcytic anemia, Sideroblastic anemia |
OMIM:301310 |
Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:243500 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Leukocyte Adhesion Deficiency Type Ii |
|
Anemia, Short stature, Broad eyebrow, Neutrophilia, Long eyelashes, Severe periodontitis, Recurre... |
ORPHA:99843 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Macrocephaly, Microphthalmia |
OMIM:617306 |
Squalene Synthase Deficiency |
|
Epicanthus, Abnormality of hair pigmentation, Bilateral cryptorchidism, Hypospadias, Intrauterine... |
OMIM:618156 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Hepatosplenomegaly, Recurrent pneumonia, ... |
OMIM:619644 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Elevated circulating erythropoietin concentration, Increased hemoglobin, Po... |
OMIM:617907 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Tethered cord, Sandal gap, Macrodactyly |
OMIM:612918 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Hypodontia, Submucous cleft hard palate, Glossoptosis, High, narrow palate |
ORPHA:3201 |
Malignant Atrophic Papulosis |
|
Abnormal conjunctiva morphology, Constrictive pericarditis |
OMIM:602248 |
Acrofrontofacionasal Dysostosis 2 |
|
Hand polydactyly, Broad hallux, Syndactyly, Broad thumb, Microcephaly |
OMIM:239710 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregatio... |
OMIM:614075 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hypoparathyroidism, Bone marrow hypocellu... |
ORPHA:699 |
Tenorio Syndrome |
|
Recurrent aphthous stomatitis, Keratoconjunctivitis sicca, Hypertrichosis, Recurrent pneumonia, H... |
OMIM:616260 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Encephalocele, Patellar hypoplasia, ... |
OMIM:603671 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:257910 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Mitral stenosis, Tethered cord, Microcephaly, Aortic valve stenosis |
OMIM:617660 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Takenouchi-Kosaki Syndrome |
|
Sparse eyebrow, Downslanted palpebral fissures, Synophrys, Eversion of lateral third of lower eye... |
OMIM:616737 |
Barth Syndrome |
|
Fair hair, Hypochromic microcytic anemia, Cyclic neutropenia, Growth delay, Granulocytopenia, Neu... |
OMIM:302060 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia |
OMIM:112200 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Downslanted palpebral fissures, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Triploidy |
|
Meningocele, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the corpus callosum, Fin... |
ORPHA:3376 |
Vici Syndrome |
|
Leukopenia, Hypopigmentation of the skin, Penile hypospadias, T lymphocytopenia, Ocular albinism,... |
OMIM:242840 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Absent scrotum, Absence of labia majora, Synophrys, Broad eyebrow, Keratoconjunct... |
ORPHA:495875 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hip dysplasia, Cerebellar vermis hypoplasia, Overlapping toe, Microphthalmia, Cerebral atrophy, O... |
OMIM:618494 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Dysphagia |
OMIM:313200 |
Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, Hypogonadism, White eyelashes, White eyebrow, Hypopigmented skin patch... |
OMIM:613266 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Xeroderma Pigmentosum, Variant Type |
|
Conjunctivitis, Keratitis, Ectropion, Entropion |
OMIM:278750 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida, Hip dislocation, Abnormality of tibia morphology, Abnormality of ... |
ORPHA:93929 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Encephalocele, Toe syndactyly, Periventricular leukomalacia, Hyp... |
OMIM:100300 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Anemia, Pericarditis, Serositis, Thrombocytopenia |
ORPHA:231111 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Myocarditis, Infectious encephalitis, Abnormal macrophage morphology, Hepatit... |
ORPHA:292 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Small nail, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Foxg1 Syndrome |
|
Short stature, Stereotypical hand wringing, Abnormal repetitive mannerisms, Severe postnatal grow... |
ORPHA:561854 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microphthalmia, Microcephaly |
ORPHA:1942 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Optic nerve aplasia, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Hypoplas... |
OMIM:206900 |
Wiedemann-Steiner Syndrome |
|
Short palpebral fissure, Hyperactivity, Decreased response to growth hormone stimulation test, Rh... |
ORPHA:319182 |
Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Syndactyly, Brachydactyly, Portal hypertension, Tricuspid regurgitation |
OMIM:616589 |
Macrocephaly-Developmental Delay Syndrome |
|
Downslanted palpebral fissures, Narrow palpebral fissure, Abnormal repetitive mannerisms, Hepatos... |
ORPHA:397612 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Lipomas of eyelids, Lacrimal punctal atresia, Widow's peak, Severe postnatal grow... |
ORPHA:2399 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Single transverse palmar crease, Microphthal... |
OMIM:616449 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Cryp... |
OMIM:613001 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle, Microcytic anemia |
ORPHA:90308 |
Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Synovitis, Hypochromic microcytic anemia, Pu... |
ORPHA:77297 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Menorrhagia, T... |
OMIM:139090 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Postaxial polydactyly, Short long bone |
OMIM:615633 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Joint contracture of the hand, Clinodactyly of the 5th toe, Single trans... |
OMIM:244300 |
Pseudohypoparathyroidism Type 1B |
|
Conjunctivitis, Decreased response to growth hormone stimulation test, Short stature, Elevated ci... |
ORPHA:94089 |
Refsum Disease |
|
Short metacarpal, Heart block, Microphthalmia, Hammertoe, Abnormal epiphysis morphology, Cardiomy... |
ORPHA:773 |
Lymphedema-Distichiasis Syndrome |
|
Conjunctivitis, Yellow nails, Ptosis, Ectropion, Distichiasis, Recurrent corneal erosions, Cornea... |
OMIM:153400 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Xeroderma Pigmentosum, Complementation Group E |
|
Conjunctivitis, Keratitis, Ectropion, Entropion |
OMIM:278740 |
Oculo-Palato-Cerebral Syndrome |
|
Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Small hand, Microphthalmia, Micr... |
ORPHA:2714 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Cerebellar hypoplasia, 3-4 finger cutaneous syndactyly, Holoprosencephaly, Microphthalmia, Sandal... |
OMIM:612530 |
Lathosterolosis |
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Downslanted palpebral fissures, Epicanthus, Anisopoikilocytosis, Opacification of the corneal str... |
ORPHA:46059 |
Oculocutaneous Albinism Type 1 |
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Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Hyperbilirubinemia, Rotor Type |
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Abnormality of skin pigmentation |
OMIM:237450 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Ambiguous genitalia, Short stature, Epicanthus, Abnormality of the male genitalia, Hypopl... |
ORPHA:847 |
Castleman Disease |
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Anemia, Generalized lymphadenopathy, Decreased mean corpuscular volume, Lymphadenopathy, Follicul... |
ORPHA:160 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Cohen Syndrome |
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Downslanted palpebral fissures, Abnormality of skin pigmentation, Abnormal eyelid morphology, Neu... |
ORPHA:193 |
Ghosal Hematodiaphyseal Dysplasia |
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Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia |
OMIM:231095 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Brachydactyly, Deep palm... |
OMIM:619451 |
Laurence-Moon Syndrome |
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Brachydactyly, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Precocious puberty, Hyperactivity, Abnormality of skin pigmentation |
ORPHA:457260 |
Immunodeficiency 40 |
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T lymphocytopenia, Chronic oral candidiasis, Interstitial pneumonitis, Eosinophilic granuloma, Re... |
OMIM:616433 |
Multiple Benign Circumferential Skin Creases On Limbs |
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Congestive heart failure, Upper limb asymmetry, Microphthalmia, Microcephaly, Umbilical hernia |
ORPHA:2505 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
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Small nail, Hypogonadism, Nasolacrimal duct obstruction, Hypoplastic nipples, Sparse hair |
OMIM:273400 |
Roberts Syndrome |
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Wrist flexion contracture, Aplasia/Hypoplasia of the thumb, Abnormality of the upper limb, Comple... |
ORPHA:3103 |
Chromosome 3Pter-P25 Deletion Syndrome |
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Tapered finger, Macular hypoplasia, Overlapping toe, Microcephaly, Postaxial polydactyly |
OMIM:613792 |
Monosomy 13Q14 |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Holoprosencep... |
ORPHA:1587 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia, Heart murmur |
ORPHA:2728 |
Nance-Horan Syndrome |
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Microphthalmia, Short metacarpal |
ORPHA:627 |
Letterer-Siwe Disease |
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Anemia, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Seborrheic dermatitis |
OMIM:246400 |
Microcephaly 30, Primary, Autosomal Recessive |
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Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Ciliary Dyskinesia, Primary, 14 |
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Bronchiectasis, Polysplenia, Reduced sperm motility, Chronic sinusitis, Recurrent pneumonia, Male... |
OMIM:613807 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
Kallmann Syndrome With Spastic Paraplegia |
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Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Warburg Micro Syndrome 3 |
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Cerebral cortical atrophy, Clinodactyly of the 5th finger, Secondary microcephaly, Microphthalmia... |
OMIM:614222 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of the skin, Anterior pituitary hypoplasia, Head-banging, Decreased response to ... |
ORPHA:177907 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Horizontal eyebrow, Hyperactivity, Short stature, Epicanthus, Frontal upsweep of hair, Agitation,... |
ORPHA:369891 |
Spermatogenic Failure 77 |
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Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Hypothyroidism, Anemia, Blepharophimosis, Lymphopenia, Severe B lymphocytopenia, Cataract, Severe... |
OMIM:620005 |
Gaucher Disease Type 1 |
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Leukopenia, Anemia, Hypersplenism, Pancytopenia, Delayed puberty, Growth delay, Thrombocytopenia,... |
ORPHA:77259 |
Teebi-Shaltout Syndrome |
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Caudal appendage, Talipes equinovarus, Camptodactyly, Metatarsus adductus, Syndactyly, Single tra... |
OMIM:272950 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Hypoplastic ilia, Hypoplasia of the radius, Relative macrocephaly, Syndactyly, Brachydactyly, Pos... |
OMIM:617895 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Mild postnatal growth retardation, Abnormal repetitive mannerisms, Epicanthus |
ORPHA:530983 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Tubulointerstitial nephritis, Abnormality of the orbital region, Nodular goiter, Thyroiditis, Ker... |
ORPHA:79078 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Christianson Syndrome |
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Thick eyebrow, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:85278 |
Hermansky-Pudlak Syndrome |
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Abnormality of thrombocytes, Hypopigmentation of the skin, Melanocytic nevus, Neutropenia, Ocular... |
ORPHA:79430 |
Aregenerative Anemia |
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Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Bartsocas-Papas Syndrome |
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Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Ambiguous genitalia, Ankyloblepharon, Al... |
ORPHA:1234 |
Bardet-Biedl Syndrome 8 |
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Postaxial polydactyly |
OMIM:615985 |
Oculoectodermal Syndrome |
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Hyperactivity, Epicanthus, Pineal cyst, Limbal dermoid, Supernumerary nipple, Microcornea, Astigm... |
OMIM:600268 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
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Sparse eyebrow, Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Primary hypo... |
OMIM:225050 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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2-3 toe syndactyly, Radial bowing, Hydrocephalus, Ulnar bowing, Hypoplastic ischia, Single transv... |
OMIM:617866 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Cenani-Lenz Syndactyly Syndrome |
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Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Broad hallux, Syndactyly... |
OMIM:212780 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Abnormal natural killer cell count, Anemia, T lymphocytopenia, Recurrent aspiration pneumonia, Pa... |
ORPHA:79124 |
African Trypanosomiasis |
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Conjunctivitis, Alopecia, Myelitis, Impotence, Abnormality of circulating cortisol level, Iritis,... |
ORPHA:3385 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
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2-3 toe syndactyly, Macrocephaly, Single transverse palmar crease, Microphthalmia, Joint contract... |
OMIM:620098 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Downslanted palpebral fissures, Hyperactivity, Curly hair, Cafe-au-lait spot, Hypopigmented skin ... |
ORPHA:457485 |
Congenital Disorder Of Glycosylation, Type Iil |
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Epicanthus, Pancytopenia, Inflammation of the large intestine, Growth delay, Intrauterine growth ... |
OMIM:614576 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Asplenia, Male infertility, Recurrent otitis media |
OMIM:618948 |
Joubert Syndrome 15 |
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Polydactyly |
OMIM:614464 |
Congenital Sialidosis Type 2 |
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Polydactyly, Telangiectasia, Abnormal EKG, Hydrocephalus, Macrocephaly, Hypoplasia of the fovea, ... |
ORPHA:93400 |
Syndromic Diarrhea |
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Hypothyroidism, Trichorrhexis nodosa, Cafe-au-lait spot, Generalized hypopigmentation, Brittle ha... |
ORPHA:84064 |
Partial Androgen Insensitivity Syndrome |
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Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Toe syndactyly, Syndactyly, Clinodactyly of the 5th finger |
OMIM:601163 |
Rothmund-Thomson Syndrome |
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Sparse eyebrow, Hypopigmentation of the skin, Small nail, Anemia, Malar rash, Short stature, Skin... |
ORPHA:2909 |
Congenital Disorder Of Glycosylation, Type Iit |
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Downslanted palpebral fissures, Short stature, Pineal cyst, Astigmatism, Iron deficiency anemia |
OMIM:618885 |
Desbuquois Dysplasia 2 |
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Short phalanx of finger, Genu varum, Advanced ossification of carpal bones, Coxa valga, Short met... |
OMIM:615777 |
Pterygium Of Conjunctiva And Cornea |
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Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
47,Xyy Syndrome |
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Macroorchidism, Hyperactivity, Increased serum testosterone level, Azoospermia, Oligospermia, Imp... |
ORPHA:8 |
Fanconi Anemia, Complementation Group B |
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Hypogonadism, Thrombocytopenia, Hypergonadotropic hypogonadism, Growth delay, Intrauterine growth... |
OMIM:300514 |
Erythrocytosis, Familial, 3 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia |
OMIM:619053 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Mitten deformity, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Tapered distal ... |
OMIM:609638 |
Microphthalmia, Lenz Type |
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Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Complete duplication of thumb... |
ORPHA:568 |
Incontinentia Pigmenti |
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Supernumerary nipple, Abnormality of the nail, Hypoplastic fingernail, Abnormal toenail morpholog... |
ORPHA:464 |
Robinow Syndrome, Autosomal Recessive 2 |
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Long philtrum, Cleft soft palate, Absent uvula, Triangular mouth, Gingival overgrowth, Abnormalit... |
OMIM:618529 |
Boutonneuse Fever |
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Leukopenia, Skin rash, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Maculopapular... |
ORPHA:83313 |
Stromme Syndrome |
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Cerebellar hypoplasia, Hydrocephalus, Optic nerve hypoplasia, Preaxial polydactyly, Microcephaly,... |
OMIM:243605 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Short foot, Small hand, Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Short palm |
OMIM:241410 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Wide pubic symphysis, Encephalocele, Myelomeningocele, Cutaneous... |
OMIM:219000 |
Brucellosis |
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Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Kne... |
ORPHA:1304 |
White Forelock With Malformations |
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Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Short tibia, Encephalocele, Short long bone, Cerebellar hypoplasia, Flat acetabular roof, Relativ... |
OMIM:616300 |
Pearson Marrow-Pancreas Syndrome |
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Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Punctate kerati... |
OMIM:557000 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Downslanted palpebral fissures, Melanocytic nevus, Keratoconjunctivitis sicca, Ectopia lentis, In... |
OMIM:616914 |
Mullegama-Klein-Martinez Syndrome |
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Polydactyly, Clinodactyly of the 5th finger, Microcephaly |
OMIM:301022 |
Vernal Keratoconjunctivitis |
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Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of the skin, Iris hypopigmentation, Recurrent hand flapping, Hypopigmentation of... |
ORPHA:411511 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Congenital Disorder Of Glycosylation, Type Iif |
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Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
Fanconi Anemia, Complementation Group N |
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Aplastic anemia, Cafe-au-lait spot, Postnatal growth retardation, Epicanthus |
OMIM:610832 |
Timothy Syndrome |
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Syndactyly, Prolonged QT interval, Bradycardia, Cutaneous syndactyly |
OMIM:601005 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
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Sparse body hair, Abnormality of skin pigmentation, Eczema, Abnormal fingernail morphology, Spars... |
ORPHA:1810 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Microcephaly, Postaxial polydactyly |
ORPHA:544254 |
Pfeiffer Syndrome |
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Short middle phalanx of toe, Finger syndactyly, Humeroradial synostosis, Elbow ankylosis, Hydroce... |
OMIM:101600 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Finger syndactyly, Toe syndactyly, Cerebral calcification, Microcephaly, Arachnodactyly, Short palm |
ORPHA:73246 |
5Q14.3 Microdeletion Syndrome |
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Upslanted palpebral fissure, Thick eyebrow, Abnormal repetitive mannerisms |
ORPHA:228384 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Anterior synechiae of the anterior chamber, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
Familial Exudative Vitreoretinopathy |
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Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphthalmia, Microcep... |
ORPHA:891 |
2Q37 Microdeletion Syndrome |
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Sparse eyebrow, Sparse scalp hair, Short stature, Supernumerary nipple, Abnormal repetitive manne... |
ORPHA:1001 |
Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Ulnar deviation of the hand, Agenesis... |
OMIM:612651 |
Relapsing Fever |
|
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia |
ORPHA:91547 |
Congenital Tricuspid Valve Dysplasia |
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Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Clinodactyly, Broad hallux, Sandal gap, Microphthalmia, Brachydactyly, 3-4 toe syndactyly |
OMIM:618727 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... |
OMIM:618278 |
Abetalipoproteinemia |
|
Hypothyroidism, Anemia, Keratoconjunctivitis sicca, Abnormality of retinal pigmentation, Reticulo... |
ORPHA:14 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Hypopigmented skin patches,... |
ORPHA:163746 |
Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Cerebella... |
OMIM:617822 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
Reactive Arthritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Enthesitis, Arthritis, Abnormality ... |
ORPHA:29207 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Hypopla... |
OMIM:253800 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ptosis, Hypothyroidism, Neutropenia, Microcytic anemia |
OMIM:251900 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Short distal ph... |
ORPHA:1515 |
Noonan Syndrome 1 |
|
Downslanted palpebral fissures, Cafe-au-lait spot, Hypogonadism, Epicanthus, Short stature, Amega... |
OMIM:163950 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Degcags Syndrome |
|
Ambiguous genitalia, Premature graying of hair, Synophrys, Choking episodes, Hepatosplenomegaly, ... |
OMIM:619488 |
9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Aplasia/Hypoplasia of the corpus callosum, Syringomyelia, Hip dysplasia |
ORPHA:531151 |
Immunodeficiency 22 |
|
Anemia, Chronic oral candidiasis, Pericarditis, Retinal vasculitis, Panniculitis, Decreased propo... |
OMIM:615758 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Buphthalmos, Ty... |
OMIM:613150 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short long bone, Absent tibia, Short digit, Agenesi... |
OMIM:613091 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Tapered finger, Finger syndactyly, Camptodactyly, Single transverse palmar crease, Microcephaly, ... |
ORPHA:435938 |
Isolated Sedoheptulokinase Deficiency |
|
Anemia, Short stature, Hepatitis, Hypochromic microcytic anemia, Severe postnatal growth retardat... |
ORPHA:440713 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly, Neural tube defect |
OMIM:119580 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Clinodactyly of the 5th finger, Brachydactyly, Spina bifida occult... |
ORPHA:1786 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hypoplasia of the iris, Lymphadenopathy, Chronic otitis media, Thrombocytopenia... |
ORPHA:169090 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Maculopapular exanthema, Infectious encephalitis, Skin rash, Lymphadenopathy, Hemophagocy... |
ORPHA:540 |
Dermatitis Herpetiformis |
|
Eczema, Microcytic anemia |
ORPHA:1656 |
Suleiman-El-Hattab Syndrome |
|
Polydactyly, Clinodactyly, Single transverse palmar crease, Microcephaly, Brachydactyly |
OMIM:618950 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Spina bifida, Foot polydactyly, Arrhinencephaly, Hydrocephalus, Talipes equinovarus,... |
ORPHA:567 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Downslanted palpebral fissures, Anemia, Aplasia/Hypoplasia of the nails, Bila... |
ORPHA:163979 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Short 5th finger, Broad hallux, Broad thumb, Sandal gap, Microcephaly, Short ... |
OMIM:600987 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Broad eyebrow, Abnormal repetitive mannerisms, Sacral hypertrichosis, Thrombocytopenia, Highly ar... |
ORPHA:457351 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Retinitis Pigmentosa 35 |
|
Abnormality of skin pigmentation |
OMIM:610282 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus, Hypoplasia of the ... |
ORPHA:3186 |
Biotinidase Deficiency |
|
Eczematoid dermatitis, Alopecia, Skin rash, Conjunctivitis |
ORPHA:79241 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Menorrhagia |
OMIM:601709 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Cerebral cortical atrophy, Finger syndactyly, Cerebellar hypoplasia, Toe syndactyly, Abnormal met... |
ORPHA:3224 |
Deeah Syndrome |
|
Short palpebral fissure, Anterior pituitary hypoplasia, Decreased response to growth hormone stim... |
OMIM:619004 |
Seckel Syndrome 1 |
|
Downslanted palpebral fissures, Hyperactivity, Blepharophimosis, Pancytopenia, Hypospadias, Crypt... |
OMIM:210600 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Bardet-Biedl Syndrome 19 |
|
Postaxial polydactyly |
OMIM:615996 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Short foot, Finger syndactyly, Small hand, Clinodactyly of the 5th finge... |
ORPHA:915 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Hyperintensity of cerebral white matter on MRI, Flared iliac wing, Spina bifida occu... |
OMIM:180849 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Lacrimal duct stenosis, Conjunctivitis |
OMIM:615560 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia, Short stature |
OMIM:616577 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Short metacarpal, Short finger, Abnormal finger flexion crea... |
ORPHA:2980 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Congenital thrombocytopenia, Leukocytosis |
OMIM:618886 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Synophrys, Hirsutism, Coarse hair, Splenomegaly |
OMIM:252920 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Decreased response to growth hormone stimulation test, Short stature, Keratoconjunctivitis sicca,... |
OMIM:616007 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic conjunctivitis, Short stature, Allergic rhinitis, Premature ovarian insufficiency, Diabe... |
OMIM:176690 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Pancytopenia, Diabetes mellitus, Thrombocytopenia |
OMIM:613845 |
Nocardiosis |
|
Endocarditis, Lymphadenitis, Conjunctivitis, Brain abscess, Osteomyelitis, Dacryocystitis, Scleri... |
ORPHA:31204 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Short stature, Epicanthus, Multiple pterygia, Pterygium, Hypoplastic female external genitalia, H... |
OMIM:177980 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Bilateral ptosis, Epicanthus, Synophrys, Coarse hair, Upslanted palpebral fissure, Br... |
OMIM:616351 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Alg8-Cdg |
|
Thrombocytopenia, Intrauterine growth retardation, Anemia, Cataract |
ORPHA:79325 |
Monosomy 22 |
|
Epicanthus, Synophrys, Narrow palpebral fissure, Hepatosplenomegaly, Hypochromic microcytic anemi... |
ORPHA:96123 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Epicanthus, Synophrys, Cryptorchidism, Upslanted palpebral fissure, Intrauterine g... |
OMIM:615824 |
Galloway-Mowat Syndrome 3 |
|
Simplified gyral pattern, Camptodactyly, Hypertension, Hip dislocation, Lissencephaly, Microphtha... |
OMIM:617729 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist... |
ORPHA:3472 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Abnormal pelvis bone ossification, Abnormal pelv... |
ORPHA:166119 |
Tarp Syndrome |
|
Short sternum, Cerebellar hypoplasia, Hypoplasia of the radius, Talipes equinovarus, Clinodactyly... |
OMIM:311900 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Syndactyly, Brachydactyly, Short distal phala... |
OMIM:614091 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Postaxial polydactyly, Broad dist... |
ORPHA:404440 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sandal gap, Postaxial polydactyly, Broad distal phalanx of finger |
OMIM:615761 |
Mend Syndrome |
|
2-3 toe syndactyly, Hydrocephalus, Hand polydactyly, Overlapping toe, Broad hallux, Microphthalmi... |
ORPHA:401973 |
Dubowitz Syndrome |
|
Short palpebral fissure, Hyperactivity, Sparse scalp hair, Sparse lateral eyebrow, Megalocornea, ... |
OMIM:223370 |
Neurofibromatosis, Type I |
|
Genu valgum, Aqueductal stenosis, Spina bifida, Hydrocephalus, Macrocephaly, Hypertension, Tibial... |
OMIM:162200 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Shawl scrotum, Epicanthus, Hypochromic microcytic anemia, HbH... |
OMIM:301040 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Alopecia, Leukopenia, Anemia, Malar rash, Myocarditis, Enlargemen... |
ORPHA:50918 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Thrombocytopenia, Enterocolitis, T... |
ORPHA:391487 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Synophrys, Hypertrichosis, Hirsutism, Coarse hair, Dysphagia, Splenomegaly |
OMIM:252930 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Nail dystrophy, Bone marrow hypocellularity, Colitis, Intrauterine growth retardation... |
OMIM:615190 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Adrenal insufficiency, Hypersplenism, Hepatosplenomegaly, Adrenal calcificati... |
OMIM:278000 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Infectious encephalitis, Skin rash, Pancytopenia, Hepatosplenomegaly, Lymphad... |
OMIM:603553 |
Chronic Graft Versus Host Disease |
|
Alopecia, Abnormality of skin pigmentation, Bronchiectasis, Arthritis, Fasciitis, Keratoconjuncti... |
ORPHA:99921 |
Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Encephalocele, Spina bifida, Microcephaly, Arrhythmia |
ORPHA:991 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Synophrys, Hirsutism, Coarse hair, Splenomegaly |
OMIM:252900 |
Angelman Syndrome |
|
Precocious puberty in females, Hypopigmentation of the skin, Hyperactivity, Fair hair, Iris hypop... |
ORPHA:72 |
Fraser Syndrome |
|
Myelomeningocele, Encephalocele, Wide pubic symphysis, Finger syndactyly, Toe syndactyly, Anophth... |
ORPHA:2052 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Keratoconjunctivitis sicca, Growth delay, Colitis |
ORPHA:309031 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sicca, Pericarditis |
OMIM:617321 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... |
ORPHA:3320 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Eem Syndrome |
|
Ectrodactyly, Finger syndactyly |
ORPHA:1897 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Epicanthus, Inc... |
ORPHA:1772 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia |
OMIM:277480 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Hyperactivity, Iris hypopigmentation, Recurrent hand flapping, Hypo... |
ORPHA:98794 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Precocious puberty, Short stature, Synophrys, Abnormal repetitive mannerisms, Mic... |
ORPHA:819 |
16P12.1P12.3 Triplication Syndrome |
|
Short palpebral fissure, Hyperactivity, Decreased response to growth hormone stimulation test, Ep... |
ORPHA:485405 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Macrocephaly, Postaxial foot polydacty... |
OMIM:608091 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Downslanted palpebral fissures, Hyperactivity, Curly hair, Sparse scalp hair, Loose anagen hair, ... |
OMIM:607721 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:269920 |
Thymoma |
|
Leukemia, Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Imbalanced hemo... |
ORPHA:99867 |
Tangier Disease |
|
Anemia, Hepatosplenomegaly, Ectropion, Corneal opacity, Chronic noninfectious lymphadenopathy, Th... |
ORPHA:31150 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Thyroid carcinoma, Pituitary adenoma, Multiple lentigines, Pheoch... |
OMIM:160980 |
Igg4-Related Retroperitoneal Fibrosis |
|
Impotence, Retrograde ejaculation, Rheumatoid arthritis, Normocytic anemia, Deep dermal perivascu... |
ORPHA:49041 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Thrombocytopenia, Seborrheic dermatitis, Absent circulating B cells |
OMIM:619693 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger, Microphthalmia |
OMIM:302350 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
X-Linked Intellectual Disability, Cabezas Type |
|
Downslanted palpebral fissures, Hyperactivity, Hypogonadism, Epicanthus, Blepharophimosis, Synoph... |
ORPHA:85293 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of skin pigmentation, Splenomegaly |
ORPHA:834 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Tongue thrusting, ... |
ORPHA:98795 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chronic sinusitis, Chronic rhinitis,... |
OMIM:612444 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Microcephaly, Cerebellar hypoplasia |
OMIM:618087 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Atopic dermatitis, Growth delay |
ORPHA:3240 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Infectious encephalitis, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia,... |
OMIM:267700 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Zonular cataract, Rhizomelia, Recurrent pneumonia, Cataract, Growth delay, Thrombocyt... |
OMIM:616271 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Corneal neovascularization, Hypoplastic iris stroma, Hypoplasia of the fovea,... |
ORPHA:2334 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Encephalocele, Microphthalmia, Agenesis of corpus callosum |
ORPHA:228390 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Hypochromic anemia, Metrorrhagia, Menorrhagia, Refractory anemia |
ORPHA:99147 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Alopecia of scalp, Freckling, Conjunctival telangiectasia, Hyperme... |
OMIM:618373 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Thrombocytopenia, Hypopituitarism |
ORPHA:449285 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Acetabular spurs, Abnormal ilium mor... |
ORPHA:1505 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Thrombocytopenia, Neutropenia, Pancreatitis |
OMIM:251000 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Leukocytosis, Thrombocytopenia, Goiter |
ORPHA:83601 |
Oculodentodigital Dysplasia |
|
Short middle phalanx of the 5th finger, 4-5 finger syndactyly, Clinodactyly, Hip dislocation, Abn... |
OMIM:164200 |
Caroli Syndrome |
|
Leukopenia, Liver abscess, Hypersplenism, Conjunctival icterus, Cholangitis, Leukocytosis, Abnorm... |
ORPHA:480520 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... |
OMIM:601399 |
Koolen-De Vries Syndrome |
|
Hypothyroidism, Short stature, Epicanthus, Blepharophimosis, Hypopigmentation of hair, Ptosis, Ca... |
ORPHA:96169 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Elevated circulating erythropoietin concentration, Increased red blood cell... |
OMIM:263400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Thrombocytopenia, Diabetes insipidus, Lentiglobus, Periodontitis, Arthritis, Compulsive behaviors... |
ORPHA:534 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Leukopenia, Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic o... |
ORPHA:2298 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Chronic otitis media, Recurrent sinusitis, Bronchiectasis |
OMIM:300991 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism, Anemia, Thrombocytosis, Growth delay, Iron deficiency anemia |
OMIM:226300 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... |
ORPHA:85451 |
Rubinstein-Taybi Syndrome |
|
Downslanted palpebral fissures, Short stature, Epicanthus, Ptosis, Attention deficit hyperactivit... |
ORPHA:783 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Long fingers, Dandy-Walker malfo... |
OMIM:156610 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Hemolytic anemia, Chronic oral candidiasis, Hepatitis, Sclerosing chola... |
OMIM:308230 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Mi... |
ORPHA:65286 |
Trichinellosis |
|
Central retinal artery occlusion, Conjunctivitis, Skin rash, Dysphagia, Anisocoria, Conjunctival ... |
ORPHA:863 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, Osteomyelitis, Short stature, Arthritis, Hypochromic microcytic anemia |
OMIM:619423 |
Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Short stature, Pancreatitis, Fine hair, Hemophagocytosis, Thrombocytopenia, S... |
OMIM:222700 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... |
ORPHA:710 |
Klippel-Trenaunay-Weber Syndrome |
|
Hand oligodactyly, Syndactyly, Hand polydactyly, Macrodactyly |
OMIM:149000 |
Peutz-Jeghers Syndrome |
|
Ovarian cyst, Uterine neoplasm, Neoplasm of the pancreas, Iron deficiency anemia, Hypermelanotic ... |
OMIM:175200 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Lymphopenia, Acute pancreatitis, Dysphagia, Thrombocytopenia, Maculopapula... |
ORPHA:319218 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Short stature, Abnormal repetitive mannerisms |
ORPHA:280763 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Skin rash, Arthritis, Esophag... |
OMIM:301074 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Encephalocele, Myelomeningocele, Cerebellar hypoplasia, Flared iliac win... |
ORPHA:90652 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Short long bone, Hypoplasia of the ulna, Apl... |
ORPHA:2256 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cardiomyopathy, Arachnodactyly, Hand muscle atrophy, Spina bifida, Hydrocephalus, Macrocephaly, C... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Arachnodactyly, Hand muscle atrophy, Spina bifida, Hydrocephalus, Macrocephaly, C... |
ORPHA:363958 |
Revesz Syndrome |
|
Megalocornea, Leukocoria, Ridged fingernail, Fine hair, Nail pits, Bone marrow hypocellularity, I... |
OMIM:268130 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Abnormality of skin pigmentation, Nail dystrophy, Pancytopenia |
OMIM:613988 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Ptosis, Hypopigmented skin patches |
ORPHA:53271 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Synophrys, Long eyelashes, Hypoplastic labia majora, Intrauterine growth retardati... |
OMIM:122470 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Short femoral neck, Coxa vara, Radioulnar synostosis, Clinodactyly of the 5th... |
OMIM:614701 |
Overlap Myositis |
|
Leukopenia, Rheumatoid arthritis, Arthritis, Diabetes mellitus, Dysphagia, Thrombocytopenia |
ORPHA:206572 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly |
ORPHA:64743 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of the olfactory bulb, Anophthalmia |
ORPHA:2250 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Hydrocephalus, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgit... |
ORPHA:2556 |
Behçet Disease |
|
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Pancreatitis,... |
ORPHA:117 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Small hand, 4-5 finger syndactyly, 2-4 toe cutaneous syndactyly, Broad long bones, Microphthalmia... |
OMIM:257850 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Splenomegaly |
OMIM:616278 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Cockayne Syndrome |
|
Keratoconjunctivitis sicca, Band keratopathy, Corneal ulceration, Splenomegaly, Postnatal growth ... |
ORPHA:191 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Limbal dermoid, Short stature, Abnormal morphology of female internal ... |
ORPHA:1834 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate |
OMIM:619314 |
Cockayne Syndrome Type 3 |
|
Dry hair, Lentiglobus, Premature graying of hair, Keratoconjunctivitis sicca, Mild postnatal grow... |
ORPHA:90324 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Mydriasis, Short stature, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia... |
OMIM:259720 |
Vater/Vacterl Association |
|
Triphalangeal thumb, Spina bifida, Short thumb, Hypoplasia of the radius, Patent urachus, Radioul... |
OMIM:192350 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing, Hi... |
ORPHA:1005 |
Oculocerebrocutaneous Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Cerebellar hypoplasia, Hydrocephalu... |
ORPHA:1647 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Hyperactivity, Cafe-au-lait spot, Epicanthus, Cryptorchidism, Hypermelanotic macule, Hypoplastic ... |
OMIM:618505 |
Microphthalmia, Syndromic 9 |
|
Pulmonic stenosis, Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macrocephaly, Unilateral microphthalmos, Adducted thumb, Microcephaly, Polymicrogyria |
OMIM:618874 |
Galloway-Mowat Syndrome 1 |
|
Hand clenching, Hypoplasia of the brainstem, Joint contracture of the hand, Hypoplasia of the iri... |
OMIM:251300 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Aortic regurgitation, Toe clinodactyly, Mitral... |
ORPHA:254346 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Abnormal lymph node morphology, Anemia, Primary testicular failure,... |
ORPHA:85450 |
Short Stature With Microcephaly And Distinctive Facies |
|
Short digit, Syndactyly, Proximal placement of thumb, Microcephaly, Brachydactyly, Hypoplasia of ... |
OMIM:615789 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Finger syndactyly, Small hand, Toe syndactyly, Hydrocephalus, Short hallux, ... |
ORPHA:93259 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, H... |
ORPHA:2166 |
Lacrimoauriculodentodigital Syndrome |
|
Absent lacrimal punctum, Keratoconjunctivitis, Bicornuate uterus, Arthritis, Keratoconjunctivitis... |
ORPHA:2363 |
Bartsocas-Papas Syndrome 1 |
|
Ambiguous genitalia, Hypoplastic labia majora, Alopecia totalis, Corneal ulceration, Alopecia, Sm... |
OMIM:263650 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Broad thumb, Microphthalmia, Microcephaly, Bilateral sin... |
ORPHA:1236 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Bone marrow hypocellularity, Hepatosplenomegaly |
ORPHA:210136 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Tethered cord, Myeloschisis, Dermal si... |
OMIM:600145 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Short stature, Ptosis, Decreased serum insulin-like growth factor 1, Elevated circ... |
OMIM:608747 |
Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca, Ptosis, Dysphagia, Chronic otitis media |
ORPHA:178478 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Orofaciodigital Syndrome Type 6 |
|
Aplasia/Hypoplasia of the corpus callosum, Foot polydactyly, Mesoaxial polydactyly, Biparietal na... |
ORPHA:2754 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Absent n... |
ORPHA:978 |
Hermansky-Pudlak Syndrome 7 |
|
Albinism, Impaired platelet aggregation, Menorrhagia, Ocular albinism |
OMIM:614076 |
Eisenmenger Syndrome |
|
Bacterial endocarditis, Brain abscess, Hypochromic microcytic anemia, Iron deficiency anemia, Inc... |
ORPHA:97214 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aqueductal stenosis, Anophthalmia, Clinodactyly of the 5th ... |
ORPHA:138 |
Shwachman-Diamond Syndrome 2 |
|
Short stature, Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Schilbach-Rott Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Narrow mouth |
OMIM:164220 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Submucous cleft hard palate, Protruding tongue, Dental crowding, Thick v... |
OMIM:618106 |
Zygomycosis |
|
Brain abscess, Fasciitis, Pericarditis, Gastritis, Colitis, Chemosis, Splenic abscess, Endocardit... |
ORPHA:73263 |
Albinism, Oculocutaneous, Type Vii |
|
Albinism, Iris transillumination defect |
OMIM:615179 |
Antisynthetase Syndrome |
|
Skin rash, Keratoconjunctivitis sicca, Myositis, Dysphagia, Myocarditis |
ORPHA:81 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Downslanted palpebral fissures, Cafe-au-lait spot, Short stature, Epicanthus, Fine hair, Hepatosp... |
OMIM:613563 |
Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ... |
ORPHA:457240 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:90060 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Bilateral ptosis, Periodontitis, Keratoconjunctivitis sicca, Astigmatism, Diabetes mell... |
ORPHA:536532 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Hypoplasia of the uterus, Punctal stenos... |
ORPHA:572333 |
Sunct Syndrome |
|
Agitation, Ptosis, Palpebral edema, Restlessness, Conjunctival hyperemia |
ORPHA:57145 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Hypoplasia of the corpus callosum, Finger syndactyly, Pachygyria, Microcephaly |
ORPHA:66629 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Short stature, Epicanthus, Repetitive compulsive behavior, Compulsive behaviors, Attention defici... |
ORPHA:401777 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Retinal neovascularization, Compensated hypothyroidism, Pneumonia, ... |
ORPHA:247691 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Syndactyly, Aortic valve stenosis, Pulmonic stenosis, Dandy-Walker malformation |
OMIM:220210 |
8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Abnormal m... |
ORPHA:284160 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Joint contracture of the 5th finger, Cerebellar v... |
OMIM:619562 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Absent scrotum, Synophrys, Keratoconjunctivitis sicca, Long eyelashes, Hirsutism, Laterally exten... |
OMIM:618479 |
Alg12-Cdg |
|
Small nail, B lymphocytopenia, Epicanthus, Intrauterine growth retardation, Chronic rhinitis, Rec... |
ORPHA:79324 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Bronchiectasis, Decreased circulating cortisol level, Recurrent sinusitis, Alopecia totalis, Viti... |
ORPHA:293978 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... |
ORPHA:288 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... |
ORPHA:158048 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Simplified gyral pattern, Microphthalmia, Microcephaly |
OMIM:152950 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Finger syndactyly, Macrocephaly, Spina bifida occulta, Micr... |
ORPHA:2311 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
16P11.2P12.2 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Hyperactivity, Short stature, Epicanthus, Blepharophimosis, Tics,... |
ORPHA:261211 |
Plasminogen Deficiency, Type I |
|
Conjunctivitis, Nephritis, Periodontitis |
OMIM:217090 |
7Q11.23 Microduplication Syndrome |
|
Horizontal eyebrow, Hyperactivity, Cafe-au-lait spot, Short stature, Sparse anterior scalp hair, ... |
ORPHA:96121 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Poikilocytosis, Ptosis, Growth delay, Upslanted palpebral fissure, Intrauterin... |
OMIM:618947 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Hypodontia,... |
ORPHA:1071 |
Hermansky-Pudlak Syndrome 8 |
|
Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Impaired ... |
OMIM:614077 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Pigmentary retinopathy, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Raynaud phenomenon, Arrhythmia |
ORPHA:2874 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Bilateral ptosis, Short stature, Epicanthus, Thrombocytopenia |
OMIM:619743 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Cutaneous finger syndactyly, Elbow flexion contracture, Clino... |
ORPHA:2920 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Epiphyseal stippling, Dandy-Walker malformation, Abnormal pelvic girdle bone morphology, Tarsal s... |
OMIM:302960 |
Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Hypoplastic iris stroma |
OMIM:193500 |
Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, Macular hypoplasia, Hydrocephalus, Overlapping toe, Broad hallux... |
OMIM:300960 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morphology, Abnorm... |
ORPHA:3429 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Arthritis, Retinal arterial ... |
ORPHA:464343 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Agenesis of corpus callosum, Dilated cardiomyopathy,... |
OMIM:300952 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Sparse eyebrow, Downslanted palpebral fissures, Synophrys, Eversion of lateral third of lower eye... |
ORPHA:487796 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Skin rash |
ORPHA:99828 |
Kindler Syndrome |
|
Corneal erosion, Periodontitis, Spotty hypopigmentation, Phimosis, Spotty hyperpigmentation, Symb... |
OMIM:173650 |
Oculoauriculofrontonasal Syndrome |
|
Upper eyelid coloboma, Limbal dermoid |
ORPHA:398156 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Short stature, Pancytopenia, Persistence of hemoglobin F, Thrombo... |
OMIM:260400 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Short statu... |
ORPHA:1667 |
Caroli Disease |
|
Liver abscess, Conjunctival icterus, Cholangitis, Leukocytosis, Cholelithiasis, Splenomegaly |
ORPHA:53035 |
Legius Syndrome |
|
Hyperactivity, Short stature, Male urethral meatus stenosis, Acute monocytic leukemia, Cataract, ... |
ORPHA:137605 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Coxa valga, Epiphyseal stippling, Camptodactyly, Lissencephaly, M... |
ORPHA:96334 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Ho... |
OMIM:184705 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:212140 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Hand monodactyly, Anophthalmia, Arrhinencephaly, Absent tibia, H... |
OMIM:214800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Epicanthus, Repetitive compulsive behavior, Ptosis, Hypospadias, Cryptorchidism, Dysphagia, Upsla... |
OMIM:300260 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Agenesis of corpus cal... |
OMIM:236670 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Chronic oral candidiasis, Skin rash, Lymphopenia, Hepatospl... |
ORPHA:35078 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Abnormal spleen morphology, Hepatosplenomegaly, Metrorrhagia, Thrombocy... |
ORPHA:464329 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Camptodactyly, Absent palmar crease, Syndactyly, Microphthalmia, Hypoplasia of ... |
OMIM:614230 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cerebellar hypoplasia, Clinodactyly, Syndactyly, Proximal placement of thumb, Microcephaly, Brach... |
OMIM:217980 |
Pallister-Hall Syndrome |
|
Mesoaxial foot polydactyly, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Postaxial foot... |
OMIM:146510 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia, Skin rash |
OMIM:253270 |
Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Perisylvian polymicrogyria, Secondary microcephaly, Microphthalmia, Hy... |
OMIM:615663 |
Igg4-Related Ophthalmic Disease |
|
Prostatitis, Abnormal lacrimal gland morphology, Eosinophilia, Sialadenitis, Abnormality of the e... |
ORPHA:449563 |
Brittle Cornea Syndrome 1 |
|
Keratoglobus, Epicanthus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Kera... |
OMIM:229200 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate |
OMIM:114300 |
Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Myocarditis, Osteomyelitis, Infectious encephalitis, Hepatitis, Skin rash, Fasc... |
ORPHA:36234 |
Paroxysmal Hemicrania |
|
Rhinitis, Ptosis, Diabetes mellitus, Palpebral edema, Conjunctival hyperemia |
ORPHA:157835 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Anemia, Hypochromic microcytic anemia, Hypospadias, Growth delay |
OMIM:619147 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Highly arched eyebrow, Growth delay, Conjunctival hyper... |
OMIM:619121 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia, Intrauterine growth retardation |
OMIM:617710 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca |
OMIM:133020 |
Gaucher Disease |
|
Anemia, Abnormality of skin pigmentation, Osteomyelitis, Short stature, Hepatitis, Osteoarthritis... |
ORPHA:355 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Male infertility, Bronchiectasis |
OMIM:618801 |
Behavioral Variant Of Frontotemporal Dementia |
|
Disinhibition, Restlessness, Collectionism, Abnormal repetitive mannerisms |
ORPHA:275864 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypoplasia of the corpus callosum, Hip dysplasia, Microphthalmia, Cerebellar vermis hypoplasia |
ORPHA:494344 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Abnormal repetitive mannerisms, Pal... |
ORPHA:261144 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Growth delay, Anemia |
OMIM:614946 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Clinodactyly of the 5th toe, Clinodactyly of the 5th finge... |
ORPHA:3255 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Kbg Syndrome |
|
Single transverse palmar crease, Finger clinodactyly, Cutaneous syndactyly, Microcephaly |
ORPHA:2332 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing, Abn... |
ORPHA:1323 |
Orofaciodigital Syndrome I |
|
Polydactyly, Myelomeningocele, Abnormal cortical gyration, Porencephalic cyst, Hydrocephalus, Cli... |
OMIM:311200 |
W Syndrome |
|
Submucous cleft hard palate, Broad uvula, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Growth delay, Tooth abscess |
ORPHA:89937 |
Hermansky-Pudlak Syndrome 10 |
|
Albinism, Neutropenia, Splenomegaly, Ocular albinism |
OMIM:617050 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis, Hyperactivity, Blepharospasm, Eyelid apraxia, Dysphagia, Phonic tics, Hyperpigmen... |
OMIM:234200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Microphthalmia, Ag... |
ORPHA:3301 |
Vitreoretinochoroidopathy |
|
Retinal neovascularization, Vitreous hemorrhage, Microphthalmia |
OMIM:193220 |
Fetal Alcohol Syndrome |
|
Biparietal narrowing, Microphthalmia, Microcephaly |
ORPHA:1915 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Cerebellar hypoplasia, Foot polydactyly, Cerebral hypoplasia, Anencephal... |
OMIM:249000 |
Limited Cutaneous Systemic Sclerosis |
|
Dysphagia, Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Neuraminidase Deficiency |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:256550 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Recurrent sinusitis, Chronic rhinitis, Male infertility, Immotile sperm |
OMIM:617091 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip |
OMIM:619122 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Hypoplasia of the frontal lobes, Lobar holoprosencephaly, Optic nerve hy... |
ORPHA:468631 |
Tukel Syndrome |
|
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
Craniosynostosis, Herrmann-Opitz Type |
|
Split hand, Finger syndactyly, Brachydactyly |
ORPHA:2145 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Distal Trisomy 17Q |
|
Hyperactivity, Rhizomelia, Short stature, Epicanthus, Blepharophimosis, Severe short stature, Acc... |
ORPHA:3379 |
1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Submucous cleft hard palate, Thick vermilion border |
ORPHA:250999 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Polydactyly |
OMIM:616629 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Glomerulonephritis, Hepatosplenomegaly |
ORPHA:99931 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Bone marrow hypocellularity, Intrauterine growth reta... |
OMIM:616353 |
Aceruloplasminemia |
|
Blepharospasm, Abnormality of retinal pigmentation, Hypochromic microcytic anemia, Diabetes melli... |
ORPHA:48818 |
Miller-Dieker Lissencephaly Syndrome |
|
Polydactyly, Midline brain calcifications, Joint contracture of the hand, Agyria, Camptodactyly, ... |
OMIM:247200 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Agenesis... |
ORPHA:137675 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of... |
ORPHA:158687 |
Loeys-Dietz Syndrome 5 |
|
High palate, Cleft soft palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Tented u... |
OMIM:615582 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Hallux valgus, Finger syndactyly, Foot polyda... |
ORPHA:2008 |
Acquired Purpura Fulminans |
|
Skin rash, Thrombocytopenia |
ORPHA:49566 |
Q Fever |
|
Endocarditis, Anemia, Myocarditis, Osteomyelitis, Infectious encephalitis, Maculopapular exanthem... |
ORPHA:781 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Growth delay, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Cerebellar hypoplasia, Short digit, Open operculum, Dandy-Walker malformation, Early... |
ORPHA:397715 |
Branchio-Oculo-Facial Syndrome |
|
Premature graying of hair, Short stature, Fingernail dysplasia, Microcornea, Ptosis, Iris colobom... |
ORPHA:1297 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Ptosis, Cataract, Testicular atrophy, Hype... |
OMIM:157640 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Short stature, Chilblains, Thrombocytopenia, Splenomegaly |
OMIM:225750 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... |
OMIM:609734 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
Hennekam-Beemer Syndrome |
|
Irregular hyperpigmentation, Abnormality of skin pigmentation, Short stature, Generalized hyperpi... |
ORPHA:2135 |
Micro Syndrome |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Microphthalm... |
ORPHA:2510 |
Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Hydrocephalus, Microphthalmia, Short palm, Agenesis of corpus callosum |
ORPHA:268249 |
Apert Syndrome |
|
Broad distal phalanx of the thumb, Broad distal hallux, Preaxial hand polydactyly, Limited elbow ... |
OMIM:101200 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Finger syndactyly, Aplasia/Hypoplasia involving the central nervous system, Aplasia of the distal... |
OMIM:308050 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cranium bifidum occultum, Pectoral muscle hypoplasia/aplasia, Microphtha... |
ORPHA:306542 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Kleefstra Syndrome |
|
Short stature, Synophrys, Hypoplasia of penis, Supernumerary nipple, Abnormal repetitive manneris... |
ORPHA:261494 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Diamond-Blackfan Anemia 1 |
|
Downslanted palpebral fissures, Reticulocytopenia, Epicanthus, Short stature, Thrombocytosis, Int... |
OMIM:105650 |
Ogden Syndrome |
|
Epicanthus, Eczema, Dysphagia, Thrombocytopenia, Postnatal growth retardation, Polycythemia, Recu... |
OMIM:300855 |
Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Clinodactyly of the 5th finger |
OMIM:619736 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:251110 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Female pseud... |
ORPHA:91 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Anencephaly, Hydrocephalus, Cerebellar vermis hypoplasia, Preaxial polydactyly... |
OMIM:616546 |
Gaucher Disease, Type Ii |
|
Anemia, Recurrent aspiration pneumonia, Dysphagia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Waldenström Macroglobulinemia |
|
Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Splenomegaly, Abnormal ... |
ORPHA:33226 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Long philtrum, Submucous cleft hard palate, Anteriorly placed anus, Thin upper lip v... |
OMIM:612863 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Diabetes insipidus, Intrauterine growth retardation, Short stature |
ORPHA:423479 |
Bohring-Opitz Syndrome |
|
Short toe, Hypoplasia of the brainstem, Tapered finger, Ulnar deviation of the wrist, Agenesis of... |
OMIM:605039 |
Fucosidosis |
|
Short stature, Tortuosity of conjunctival vessels, Thick eyebrow, Vacuolated lymphocytes, Splenom... |
OMIM:230000 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Small scrotum, Ambiguous genitalia, Bifid scrotum, Ankyloblepharon, Hypoplastic labia majora, Abn... |
ORPHA:1300 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Myhre Syndrome |
|
Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Short long bone, Short finger, Camptodacty... |
OMIM:139210 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Short stature, Epicanthus, Almond-shaped palpebral fissure, Intrauterine growth re... |
OMIM:619695 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Synophrys, Abnormal repetitive mannerisms, Compulsive behaviors, Slanting of the palp... |
ORPHA:476126 |
Pseudo-Torch Syndrome 1 |
|
Opacification of the corneal stroma, Thrombocytopenia, Splenomegaly, Cataract |
OMIM:251290 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Intrauterine growth retardation, Hepatosplenomegaly, Dysphagia, Thrombocytopenia, Splenom... |
OMIM:608013 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Hydrocephalus, Single transverse palmar crease, Junctional ectopic t... |
OMIM:309801 |
Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cerebral cortical atrophy, Abnormal cortical gyration, Palmoplantar hyperhidrosis, Cessation of h... |
OMIM:617527 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Unilateral cleft palate, Unil... |
OMIM:619103 |
Darier Disease |
|
Abnormality of skin pigmentation, Abnormality of the nail, Hypermelanotic macule, Abnormal hair m... |
ORPHA:218 |
Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Hydrocephalus, Macrocephaly, Microphthalmia, Calcification of falx cere... |
ORPHA:77301 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Rheumatoid arthritis, Skin rash, Keratoconjunctivitis sicca, Eczema, Mediastinal ... |
ORPHA:79128 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Astigmatism, Recurrent pneumonia, Persistence of hemoglobin F |
OMIM:619769 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Erythroderma, Dysphagia, Inflammatory abnormality of the skin, Arthritis, Neutrophilia, P... |
ORPHA:3260 |
Crane-Heise Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Aplastic clavicle, Finger syndactyly, Toe syndactyly, ... |
ORPHA:1512 |
Premature Aging Syndrome, Penttinen Type |
|
Slender long bone, Macrocephaly, Palmoplantar hyperkeratosis, Flexion contracture of finger, Oste... |
OMIM:601812 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:251100 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Abnormality of the orbital region, Premature thelarche, Arthritis, Nodular goiter, Pterygium, Typ... |
ORPHA:371428 |
Necrotizing Enterocolitis |
|
Thrombocytopenia, Neutropenia, Peritonitis, Leukocytosis |
ORPHA:391673 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Downslanted palpebral fissures, Bilateral ptosis, Epicanthus, Absence of labia maj... |
OMIM:265000 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furrow, Oligodontia,... |
OMIM:608670 |
Megalocornea-Intellectual Disability Syndrome |
|
Downslanted palpebral fissures, Hypothyroidism, Megalocornea, Short stature, Epicanthus, Hypoplas... |
ORPHA:2479 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Decreased eosinophil count, Bronchiectasis, Crohn's disease |
OMIM:619632 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Shawl scrotum |
ORPHA:85277 |
Glucagonoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
ORPHA:97280 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Conjunctival hyperemia, Skin rash, Arthritis, Reticulocytosis, Lymphopenia, Pericardi... |
ORPHA:99826 |
Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Macrocephaly, Thickened cortex of long bon... |
OMIM:127000 |
Acrofacial Dysostosis, Palagonia Type |
|
Spina bifida occulta, Short 4th metacarpal, Finger syndactyly, Small hand |
ORPHA:1787 |
Otoonychoperoneal Syndrome |
|
Upslanted palpebral fissure, Popliteal pterygium, Abnormality of the nail |
ORPHA:2793 |
Autosomal Recessive Omodysplasia |
|
Pterygium, Rhizomelia, Short stature, Cryptorchidism |
ORPHA:93329 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Abnormal cortical gyration, Anencephaly, Arrhi... |
OMIM:236680 |
Craniofrontonasal Syndrome |
|
Downslanted palpebral fissures, Short stature, Shawl scrotum, Split nail, Widow's peak, Unilatera... |
OMIM:304110 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Reduced hematocrit, Red eye, Scleritis, Posterior synechiae of the ... |
ORPHA:91500 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal cornea morphology, Male i... |
OMIM:244400 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Cerebral cortical atrophy, Hyperextensibility of the finger join... |
OMIM:151050 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Eosinophilic infiltration of the esophagus, Pancolitis, Thrombocytosis, Leukocy... |
OMIM:618213 |
Alport Syndrome 1, X-Linked |
|
Corneal erosion, Anterior lenticonus, Lenticonus, Developmental cataract, Nephritis, Hypoparathyr... |
OMIM:301050 |
Ivic Syndrome |
|
Severe short stature, Thrombocytopenia, Rectovaginal fistula, Leukocytosis |
ORPHA:2307 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Kabuki Syndrome 1 |
|
Premature thelarche, Recurrent aspiration pneumonia, Hirsutism, Eversion of lateral third of lowe... |
OMIM:147920 |
Cantú Syndrome |
|
Coxa valga, Finger syndactyly, Macrocephaly, Hypertrophic cardiomyopathy, Short hallux, Short dis... |
ORPHA:1517 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Hypogonadism, Fair hair, El... |
ORPHA:280651 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2526 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Exencephaly, Encephalocele, Finger syndactyly, Abnormal cortical gyrat... |
ORPHA:2211 |
X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Patchy hypo- and hyperpigmentation, Short stature, Synophrys, Unilateral ptosis, ... |
ORPHA:3063 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Syndactyly, Brachydactyly, Pulmonic stenosis, Umbilical hernia |
OMIM:616028 |
Cerebrocostomandibular Syndrome |
|
High palate, Cleft soft palate, Pierre-Robin sequence, Long philtrum, Anteriorly placed anus, Cle... |
OMIM:117650 |
Cystinosis |
|
Hypothyroidism, Short stature, Type I diabetes mellitus, Abnormal repetitive mannerisms, Delayed ... |
ORPHA:213 |
Sepsis In Premature Infants |
|
Anemia, Enterocolitis, Leukocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:90051 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tapered finger, Spina bifida, Thin corpus callosum, Partial agenesis of the corpus callosum, Teth... |
OMIM:619480 |
3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Hydrocephalus, Hand polydactyly, Macroce... |
ORPHA:7 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Recurrent sinusitis, Parathyroid hypoplasia, Ovarian cy... |
OMIM:188400 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Macrocephaly, Overlapping toe, Long toe, Overlapping fingers, Long fingers, Cutaneous syndactyly |
OMIM:618316 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Proboscis Lateralis |
|
Anophthalmia, Macrocephaly, Optic nerve hypoplasia, Holoprosencephaly, Abnormal corpus callosum m... |
ORPHA:141099 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Maculopapular exanthema, Rhinitis, Fulminant hepatitis, Skin rash, Lymphopenia, Leuko... |
ORPHA:319213 |
Ring Chromosome 12 Syndrome |
|
Clinodactyly, Abnormal 5th finger morphology, Syndactyly, Microcephaly, Symphalangism of the thumb |
ORPHA:1439 |
Branchiooculofacial Syndrome |
|
Preaxial hand polydactyly, Branchial anomaly, Anophthalmia, Elbow flexion contracture, Clinodacty... |
OMIM:113620 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Bardet-Biedl Syndrome 1 |
|
Foot polydactyly, Macrocephaly, Hypertension, Postaxial foot polydactyly, Syndactyly, Radial devi... |
OMIM:209900 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Congenital hip dislocation, To... |
ORPHA:217346 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Inferior cerebellar vermis hypoplasia, Microphthalmia |
OMIM:618571 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Spinal cord tumor, Syringomyelia, Teth... |
ORPHA:573278 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Bacterial endocarditis, Azoospermia, Pancytopenia, Hepatosplenomegaly, Ptosis, Delayed pu... |
ORPHA:2072 |
Acitretin/Etretinate Embryopathy |
|
Antecubital pterygium, Hypoplasia of the thymus, Epicanthus |
ORPHA:40366 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Preaxial hand polydactyly, Finger ... |
ORPHA:2710 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:274150 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Anemia, Atopic dermatitis, Atrophic gastritis, Hemolytic anemia, Hepatitis, Skin ... |
OMIM:615846 |
Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... |
ORPHA:2751 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Axillary pterygium, Nail dysplasia, Ectropion, Anonychia, Nail dystrophy |
OMIM:226730 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia |
OMIM:610256 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of the corpus... |
ORPHA:93932 |
Coffin-Siris Syndrome |
|
Oral aversion, Hyperactivity, Small nail, Hypoplastic fifth fingernail, Sparse scalp hair, Aspira... |
ORPHA:1465 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Cleft palate, High, narrow p... |
ORPHA:2780 |
Ciliary Dyskinesia, Primary, 18 |
|
Rhinitis, Recurrent sinusitis, Recurrent otitis media, Male infertility, Immotile sperm |
OMIM:614874 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Hip dysplasia, Brachydactyly, Proximal placement of thumb, Rocker bottom foot,... |
OMIM:619762 |
Cri-Du-Chat Syndrome |
|
Short metacarpal, High axial triradius, Metatarsus adductus, Syndactyly, Single transverse palmar... |
OMIM:123450 |
Cerebrofacioarticular Syndrome |
|
Caudal appendage, Agenesis of corpus callosum, Camptodactyly, Syndactyly, Microcephaly, Hypoplasi... |
ORPHA:314679 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Dysphagia |
OMIM:254900 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Mi... |
ORPHA:364577 |
Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Porencephalic cy... |
ORPHA:2612 |
Adrenomyeloneuropathy |
|
Female sexual dysfunction, Abnormality of skin pigmentation, Adrenocorticotropic hormone excess, ... |
ORPHA:139399 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Sparse eyebrow, Abnormal repetitive mannerisms, Recurrent pneumonia, Hirsutism, Growth delay, Dys... |
ORPHA:496641 |
Hereditary Hemorrhagic Telangiectasia |
|
Retinal telangiectasia, Cholecystitis, Conjunctival telangiectasia, Cholelithiasis, Microcytic an... |
ORPHA:774 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation, Splenomegaly |
ORPHA:1414 |
Chromosome 13Q14 Deletion Syndrome |
|
Agenesis of corpus callosum, Hip dislocation, Clinodactyly of the 5th finger, Overlapping toe, Ho... |
OMIM:613884 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent otit... |
ORPHA:244 |
Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Finger syndactyly, Macrocephaly, Hand polydactyly, Congestive heart failure, ... |
ORPHA:2346 |
Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Abnormal finger morphology, Broad hallux, Abnormal toe morpholog... |
ORPHA:404448 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:235400 |
Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Cleft palate, Bifid uvula, Submucous cleft hard palate |
OMIM:108300 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Encephalocele, Finger syndactyly, Small hand, Finger symphalangi... |
ORPHA:2911 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Polydactyly, Postaxial foot polydactyly |
OMIM:615989 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of cereb... |
OMIM:613451 |
Opitz-Kaveggia Syndrome |
|
Postnatal macrocephaly, Joint contracture of the hand, Hydrocephalus, Camptodactyly, Clinodactyly... |
OMIM:305450 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Sandal gap, Microcephaly |
ORPHA:178303 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Increased red blood cell count, Granuloma, Pustule, Sinusitis, Abnormality of the a... |
ORPHA:68 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Conjunctivitis, Downslanted palpebral fissures, Hypoplastic lacrimal duct, Dacryocystitis, Absent... |
OMIM:149730 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia, Giant cell hepatitis, Nephrogenic diabetes insipidus |
OMIM:208085 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pterygium, Severe short stature, Disproportionate short-limb short stature, Cataract, Cryptorchidism |
OMIM:224410 |
Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Macrocephaly, Sandal gap, Brachydactyly, 2-4 toe syndactyly, Postaxial polyda... |
OMIM:614099 |
Rift Valley Fever |
|
Anemia, Hepatitis, Skin rash, Uveitis, Thrombocytopenia, Retinal vasculitis, Infectious encephalitis |
ORPHA:319251 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pterygium, Developmental cataract, Severe short stature, Hirsutism, Cryptorchidism |
ORPHA:1865 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Ptosis, Cataract |
ORPHA:284289 |
Cardioacrofacial Dysplasia 1 |
|
Genu valgum, Postaxial polydactyly |
OMIM:619142 |
Native American Myopathy |
|
High palate, Bifid uvula, Submucous cleft soft palate, Downturned corners of mouth, Cleft palate |
ORPHA:168572 |
Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Hypopigmentation of the skin, Short stature, Retinal pigment epithelial m... |
OMIM:219800 |
Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum, Postaxial foot polydactyly, Microcephaly, Sandal gap, Postaxial hand... |
OMIM:174300 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Horizontal eyebrow, Abnormal eyebrow morphology, Abnormality of female external g... |
ORPHA:1606 |
Pierson Syndrome |
|
Retinal hemorrhage, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasi... |
OMIM:609049 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle ... |
OMIM:180860 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Finger syndactyly, Small hand, Toe syndactyly, Short hallux, Broad thumb, Br... |
ORPHA:93260 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Corneal pterygium, Nail dystrophy, Recurrent loss of toenails and fingernails |
OMIM:245660 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypothyroidism, Hyperactivity, Hyperthyroidism, Recurrent hand flapping, Recurrent otitis media, ... |
ORPHA:449291 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Agenesis of corpus callosum, Hydrocephalus, Clinodactyly of the 5th finger, Olivop... |
ORPHA:457284 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Microphthalmia, Neonatal epiphyseal ... |
ORPHA:35173 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Downslanted palpebral fissures, Posterior polar cataract, Low posterior hairline, Iron deficiency... |
ORPHA:261584 |
White-Sutton Syndrome |
|
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Compulsive behaviors, Astigmatism, ... |
ORPHA:468678 |
Mosaic Variegated Aneuploidy Syndrome |
|
Downslanted palpebral fissures, Ambiguous genitalia, Abnormality of skin pigmentation, Hypothyroi... |
ORPHA:1052 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Grange Syndrome |
|
Syndactyly, Finger clinodactyly, Renovascular hypertension, Brachydactyly |
OMIM:602531 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Hydrocephalus, Semilobar holoprosencephaly, Macrocephaly, Alobar hol... |
OMIM:610828 |
Microphthalmia, Syndromic 1 |
|
Abnormal palmar dermatoglyphics, Anophthalmia, Joint contracture of the hand, Clinodactyly, Campt... |
OMIM:309800 |
Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Cerebellar vermis hypoplasia, Buphthalmos, Tethered cord, Microcephaly, Postaxial p... |
OMIM:618460 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal ganglia calcification, Microphthalmia, Microcephaly |
OMIM:610651 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Elbow flexion contracture, Hip dislocation, Short femur, Elbow d... |
OMIM:210710 |
Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Accessory spleen, Thrombocytopenia, Splenomegaly |
OMIM:300972 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... |
ORPHA:90041 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna |
ORPHA:246 |
Fetal Akinesia Deformation Sequence |
|
Pterygium, Intrauterine growth retardation, Cryptorchidism |
ORPHA:994 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Thin upper lip vermilion, Na... |
OMIM:300990 |
Ablepharon Macrostomia Syndrome |
|
Ambiguous genitalia, Abnormality of skin pigmentation, Cryptophthalmos, Corneal erosion, Abnormal... |
ORPHA:920 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Ohdo Syndrome, X-Linked |
|
Hip dysplasia, Clinodactyly, Overlapping toe, Microphthalmia, Ulnar deviation of the hand, Short ... |
OMIM:300895 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Peritonitis, Reticulocytosis, Schistocytosis, Leukocytosis, Th... |
ORPHA:90038 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Cleft soft palate, Wide mouth, Widely spaced teeth, Deep philtrum, Ankyloglossia, Microdontia, Sh... |
OMIM:619950 |
Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Limited elbow movement, Synostosis of carpal bones, Hydroc... |
ORPHA:221120 |
Vipoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
ORPHA:97282 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal hair morphology, Abnormality of skin pigmentation, Type I diabetes mellitus, Premature g... |
ORPHA:1979 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, 3-4 finger cutaneous syndactyly, Camptodactyly, Optic nerve hypo... |
OMIM:620029 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Short stature, Shawl scrotum, Widow's peak, Long palpebral fissure, Hypopigmentation of... |
ORPHA:1974 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Cerebral cortical atrophy, Hypoplasia of the brainstem, Hallux valgus, Primary micro... |
ORPHA:464306 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormality of the orbital region, Keratoconjunctivitis sicca, Impotence |
ORPHA:43393 |
Cockayne Syndrome A |
|
Irregular menstruation, Dry hair, Splenomegaly, Abnormality of skin pigmentation, Hypogonadism, S... |
OMIM:216400 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the phal... |
ORPHA:1112 |
Ring Chromosome 7 Syndrome |
|
Downslanted palpebral fissures, Abnormality of skin pigmentation, Cafe-au-lait spot, Bilateral pt... |
ORPHA:1449 |
Hallermann-Streiff Syndrome |
|
Small hand, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Congestive heart failure, Micr... |
ORPHA:2108 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate |
ORPHA:3426 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:313892 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Sparse scalp hair, Osteomyelitis, Corneal scarring, Nail dysplasia, Keratitis, Opa... |
OMIM:256800 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Giant hypertrophic gastritis |
ORPHA:2494 |
Momo Syndrome |
|
Short sternum, Macrocephaly, Femoral bowing, Congenital pseudoarthrosis of the clavicle, Bilatera... |
ORPHA:2563 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Downslanted palpebral fissures, Bilateral ptosis, Epicanthus, Abnormal repetitive mannerisms, Con... |
ORPHA:300570 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Neck pterygia, Gonadoblastoma, Melanocytic nevus, Epicanthus, Increased circulating gonadotropin ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Neck pterygia, Gonadoblastoma, Melanocytic nevus, Epicanthus, Increased circulating gonadotropin ... |
ORPHA:99228 |
Monosomy X |
|
Neck pterygia, Gonadoblastoma, Melanocytic nevus, Epicanthus, Increased circulating gonadotropin ... |
ORPHA:99226 |
Turner Syndrome |
|
Neck pterygia, Gonadoblastoma, Melanocytic nevus, Epicanthus, Increased circulating gonadotropin ... |
ORPHA:881 |
Wilson Disease |
|
Anemia, Hemolytic anemia, Atypical or prolonged hepatitis, Kayser-Fleischer ring, Hypoparathyroid... |
OMIM:277900 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Broad hallux, Syndactyly, Single transverse palmar crease, Sandal gap, Brachydactyly |
OMIM:614800 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Tapered finger, Small hand, Abnormal cortical gyration, Cerebellar hypoplasia, Hip dysplasia, Hip... |
OMIM:300968 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
2-3 toe syndactyly, Tapered finger, Clinodactyly of the 5th finger, Microphthalmia, Microcephaly,... |
OMIM:616734 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased CD4:CD8 ratio, Atrophic gastritis, Hemolytic anemia, Necrotizing enterocolitis, Lymphop... |
OMIM:619573 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Astigmatism, Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait |
ORPHA:168491 |
Hurler Syndrome |
|
Abnormality of skin pigmentation, Rhinitis, Short stature, Corneal opacity, Growth delay, Thick e... |
ORPHA:93473 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Submucous cleft hard palate |
OMIM:222765 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Downslanted palpebral fissures, Supernumerary nipple, Abnormal repetitive mannerisms, Astigmatism... |
ORPHA:457279 |
Mastocytosis |
|
Abnormality of skin pigmentation, Mastocytosis, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Gaucher Disease Type 3 |
|
Anemia, Pancytopenia, Delayed puberty, Growth delay, Thrombocytopenia, Splenomegaly |
ORPHA:77261 |
X Small Rings |
|
2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Toe syndactyly, Mitral stenosis, Clin... |
ORPHA:96201 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Downturned corners of mouth, Submucous cleft hard palate |
OMIM:619680 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Larsen Syndrome |
|
Accessory carpal bones, Finger syndactyly, Broad thumb, Brachydactyly, Short distal phalanx of fi... |
ORPHA:503 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Pterygium, Antecubital |
|
Antecubital pterygium |
OMIM:178200 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia, Intrauterine growth retardation, Dysphagia |
ORPHA:572798 |
Fryns Syndrome |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Clinodactyly of the 5th finger, Microphth... |
ORPHA:2059 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Acetabular dysplasia, Broad thumb, Microphthalmia, Short distal phalanx of finger |
OMIM:201180 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Short long bone, Preaxial polydactyly, Microphthalmia, Narro... |
OMIM:617925 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cleft palate |
OMIM:154500 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hip dysplasia, Macrocephaly, Clinodactyly of the 5th finger, Hypoplastic anterior commissure, Syn... |
OMIM:616975 |
Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Encephalocele, Talipes equinovarus |
OMIM:217100 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:201475 |
Steinert Myotonic Dystrophy |
|
Impotence, Secondary hyperparathyroidism, Posterior subcapsular cataract, Ovarian carcinoma, Non-... |
ORPHA:273 |
Bardet-Biedl Syndrome |
|
Postaxial hand polydactyly, Hypertension, Finger syndactyly |
ORPHA:110 |
Tarp Syndrome |
|
Short sternum, Finger syndactyly, Cerebellar hypoplasia, Clinodactyly, Hand polydactyly, Single t... |
ORPHA:2886 |
Mandibuloacral Dysplasia |
|
Alopecia, Hyperinsulinemia, Abnormality of skin pigmentation, Hypoplastic fingernail, Insulin-res... |
ORPHA:2457 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Ankyloblepharon, Hypoplasia of the vagina, Hypoplastic labia majora, Popliteal pte... |
OMIM:119500 |
Cowden Syndrome |
|
Melanocytic nevus, Enlarged polycystic ovaries, Adenoma sebaceum, Short stature, Endometrial carc... |
ORPHA:201 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Male infertility |
OMIM:614935 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Overlapping toe, Holoprosencephaly, Abnorm... |
ORPHA:672 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Impulsivity, Blepharospasm, Conjunctival hyperemia |
ORPHA:240071 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Anemia, Dysphagia, Corneal erosion, Gastrointestinal inflammation, Urethral stricture, Glomerulon... |
ORPHA:79408 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Menorrhagia, Giant platelets, Macrothrombocytopenia, Imp... |
ORPHA:274 |
Cirrhotic Cardiomyopathy |
|
Conjunctival icterus, Alcoholism |
ORPHA:57777 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Kinsship Syndrome |
|
Polydactyly, Coxa valga, Primary microcephaly, Hip dislocation, Dislocated radial head, Single tr... |
OMIM:619297 |
Myhre Syndrome |
|
Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard palate, Narrow mouth, ... |
ORPHA:2588 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Absent radius, Bilateral tali... |
OMIM:614083 |
Fryns Syndrome |
|
Joint contracture of the hand, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Dandy... |
OMIM:229850 |
Cockayne Syndrome B |
|
Hypoplastic iliac wing, Normal pressure hydrocephalus, Subcortical white matter calcifications, H... |
OMIM:133540 |
Hardikar Syndrome |
|
Pigmentary retinopathy, Lacrimal duct stenosis, Short stature, Hypersplenism, Pyelonephritis, Hep... |
OMIM:301068 |
Radial Heads, Posterior Dislocation Of |
|
Antecubital pterygium |
OMIM:179200 |
Hellp Syndrome |
|
Thrombocytopenia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hydrocephalus, Hypertension, ... |
ORPHA:87 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Increased circulating ACTH level, Insulinoma, Lymphadenopathy, Paragangliom... |
ORPHA:100076 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi |
ORPHA:91495 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Short stature, Elliptocytosis, Pancytopenia, Secondary hyperparathyroidism, B... |
ORPHA:2785 |
Dural Sinus Malformation |
|
Chemosis |
ORPHA:97339 |
Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Hip dislocation, Hypoplasia of the ulna, Split foot,... |
ORPHA:958 |
Liver Disease, Severe Congenital |
|
Pancreatic hypoplasia, Dry hair, Anemia, Leukopenia, Biliary hyperplasia, Epicanthus, Lymphocytos... |
OMIM:619991 |
Aicardi Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Small hand, Hip dysplasia, Partial agenesis of the corpus c... |
ORPHA:50 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... |
ORPHA:508533 |
Acrocallosal Syndrome |
|
Bifid distal phalanx of the thumb, Preaxial hand polydactyly, Tapered finger, Finger syndactyly, ... |
OMIM:200990 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Generalized hirsutism, Congenital giant melanocytic nevus, Hypo... |
ORPHA:626 |
Kbg Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crease, Radial deviation of ... |
OMIM:148050 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Abnormality of skin pigmentation, Adrenal hypoplasia |
OMIM:240200 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Hyphema, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Growth delay, Thrombocytopenia, Splenomegaly |
OMIM:251880 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Rothmund-Thomson Syndrome, Type 2 |
|
Telangiectasia, Forearm reduction defects, Small hand, Congenital hip dislocation, Microphthalmia... |
OMIM:268400 |
Desmosterolosis |
|
Bifid uvula, Submucous cleft hard palate, Intestinal malrotation, Narrow mouth, Cleft palate |
ORPHA:35107 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Atypical pulmonary carci... |
ORPHA:100075 |
Neurocardiofaciodigital Syndrome |
|
Polydactyly, Cavum septum pellucidum, Syndactyly, Microcephaly, Hypoplasia of the corpus callosum... |
OMIM:619869 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Phaver Syndrome |
|
Downslanted palpebral fissures, Pterygium, Intrauterine growth retardation, Epicanthus |
ORPHA:2876 |
Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, Short stature, Brittle hair, Posterior Y-sutural cataract, Coar... |
ORPHA:50814 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Aicardi-Goutières Syndrome |
|
Hypothyroidism, Chronic lymphatic leukemia, Short stature, Arthritis, Chilblains, Hepatosplenomeg... |
ORPHA:51 |
Orofaciodigital Syndrome Type 4 |
|
Oral synechia, Bifid uvula, Submucous cleft hard palate, Perineal fistula, Anal atresia, Abnormal... |
ORPHA:2753 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Tracheoesophageal fistula, Duodenal atresia, Submucous cleft hard palate, Esophageal atresia |
OMIM:619227 |
Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia, Liver abscess, Bacterial endocarditis, Brain abscess |
ORPHA:2038 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Melanocytic nevus, Synophrys, Broad eyebrow, Repetitive compulsive behavior, Iris coloboma, Juven... |
OMIM:619475 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Short stature, Hypersplenism, Acute promyelocytic leukemia, Autoimmune thrombocytopenia, Delayed ... |
ORPHA:77293 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Horizontal eyebrow, Abnormal location of the eyebrow, Epicanthus, Widow's peak, Repetitive compul... |
ORPHA:522077 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Finger syndactyly, Macrocephaly, Clinodactyl... |
OMIM:620025 |
Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Syndactyly, Micro... |
OMIM:615465 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Parathyroid adenoma, Pancreatic endocrine tumor, Retinal hamartoma, Parathyroid hy... |
ORPHA:805 |
Velocardiofacial Syndrome |
|
Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, O... |
OMIM:192430 |
Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Anencephaly, Aplasia/Hypoplasia of the radius, Occi... |
ORPHA:887 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Tick-Borne Encephalitis |
|
Leukopenia, Myelitis, Leukocytosis, Dysphagia, Thrombocytopenia |
ORPHA:297 |
Monosomy 9P |
|
Abnormality of the tarsal bones, Microphthalmia, Proximal placement of thumb, Bilateral single tr... |
ORPHA:261112 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Syndactyly, Congenital hip dislocation, Cubitus valgus, Umbilical hernia |
OMIM:104350 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
Townes-Brocks Syndrome 1 |
|
Triphalangeal thumb, 2-3 toe syndactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the 3rd... |
OMIM:107480 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Orofaciodigital Syndrome Type 1 |
|
Short toe, Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Agenesis of corpus cal... |
ORPHA:2750 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Agitation, Thrombocytosis, Leukocytosis, Dysphagia, Thrombocytopenia |
ORPHA:94093 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Downslanted palpebral fissures, Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia... |
OMIM:601552 |
Bruck Syndrome 1 |
|
Pterygium, Short stature |
OMIM:259450 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Myocarditis, Brain abscess, Hemolytic anemia, Diabetes mellitus, Leukocytosis, ... |
ORPHA:544482 |
Bruck Syndrome |
|
Pterygium, Short stature |
ORPHA:2771 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Membranoproliferative glomerulonephritis, Recurrent otitis media, Type I diabetes mellitu... |
OMIM:619525 |
Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia |
OMIM:606519 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Clinodactyly, Camptodactyly, Macrocephaly, Syndactyly, Broad thumb, Brac... |
OMIM:616894 |
Bruck Syndrome 2 |
|
Pterygium, Short stature |
OMIM:609220 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Short stature, Thrombocytopenia, Splenomegaly, Seborrheic dermatitis |
OMIM:301072 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits |
OMIM:211900 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Birth length less than 3rd percentile, Posterior pituitary hypoplasia, Intrauterine growth retard... |
ORPHA:464311 |
Bardet-Biedl Syndrome 20 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial foot polydactyly |
OMIM:619471 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Tapered finger, Finger syndactyly, Talipes equinovarus, Ulnar deviation ... |
ORPHA:2215 |
Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Long philtrum, Thick vermilion border |
OMIM:613805 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Microcephaly, Phthisis bulbi, Metaphyseal widening, Tibial bowing |
OMIM:259770 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellit... |
ORPHA:358 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, B... |
ORPHA:93325 |
Branchioskeletogenital Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Short philtrum, Anteriorly placed anus, Downturned corn... |
ORPHA:1299 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Polydactyly, Short femur, Hypertrophic cardiomyopathy, Abnormal basal gangli... |
ORPHA:17 |
Ring Chromosome 13 Syndrome |
|
Urogenital sinus anomaly, Alopecia, Ambiguous genitalia, Abnormality of skin pigmentation, Cafe-a... |
ORPHA:96176 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Short stature, Hip osteoarthritis, Abnormal repetitive mannerisms, Abnormality of ... |
ORPHA:580 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Leukopenia, Anemia, Oral aversion, Decreased response to growth hor... |
ORPHA:470 |
Cardiofaciocutaneous Syndrome 1 |
|
Dental malocclusion, High palate, Deep philtrum, Submucous cleft hard palate, Open mouth, Abnorma... |
OMIM:115150 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Intrauterine growth retardation, Epicanthus |
OMIM:312150 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia, Eczema |
OMIM:313900 |
Witteveen-Kolk Syndrome |
|
Toe syndactyly, Overlapping toe, Radial deviation of finger, Contracture of the distal interphala... |
OMIM:613406 |
Au-Kline Syndrome |
|
Coxa valga, Hip dysplasia, Deep palmar crease, Clinodactyly of the 5th finger, Hypertension, Syri... |
OMIM:616580 |
Smith-Lemli-Opitz Syndrome |
|
Downslanted palpebral fissures, Ambiguous genitalia, Rhizomelia, Short stature, Epicanthus, Clito... |
ORPHA:818 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anemia, Acute tubulointerstitial nephritis, Agitation, Glomerulonep... |
ORPHA:340 |
Sclerosteosis 1 |
|
2-3 finger syndactyly, Abnormal pelvic girdle bone morphology, Syndactyly, Deviation of finger, C... |
OMIM:269500 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe... |
OMIM:216340 |
Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia |
OMIM:601809 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Septic arthritis, Anemia, Hyperactivity, Osteomyelitis, Recurrent aspiration pneumonia, Corneal s... |
ORPHA:642 |
Somatostatinoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
ORPHA:97283 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the brainstem, Hypoplasia of the retina, Aplasia/Hypoplasia of the corpus callosum,... |
OMIM:253280 |
Craniofacial Microsomia |
|
Genu valgum, Branchial anomaly, Anophthalmia, Hydrocephalus, Partial duplication of thumb phalanx... |
OMIM:164210 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Hydrocephalu... |
OMIM:268300 |
Cat Eye Syndrome |
|
Pulmonic stenosis, Microphthalmia, Umbilical hernia, Absent radius |
OMIM:115470 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Partial duplication of the distal phalanx of the 3rd finger, Toe syndactyly, Radio... |
OMIM:101400 |
Proteus Syndrome |
|
Melanocytic nevus, Retinal hamartoma, Abnormality of the nail, Generalized hyperpigmentation, Lon... |
ORPHA:744 |
Rett Syndrome |
|
Increased serum leptin, Stereotypical hand wringing, Agitation, Abnormal repetitive mannerisms, C... |
ORPHA:778 |
Brittle Cornea Syndrome |
|
Keratoglobus, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Decreased corn... |
ORPHA:90354 |
Oculoauricular Syndrome |
|
Macular hypoplasia, Spina bifida occulta, Microphthalmia, Phthisis bulbi, Microphakia |
OMIM:612109 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased fertility, Epicanthus, Keratoconjunctivitis sicca, Abnormality of the menstrual cycle, ... |
ORPHA:285 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... |
ORPHA:2658 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mesoaxial foot polydactyly, Camptodactyly, Clinodactyly of the 5th finger, Broad hallux, Overlapp... |
OMIM:612474 |
Faciocardiomelic Syndrome |
|
Polydactyly, Hypoplastic pelvis, Slender long bone, Microcephaly |
OMIM:612731 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Downslanted palpebral fissures, Short stature, Multiple pterygia, Antecubital pterygium, Ptosis, ... |
OMIM:178110 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Meckel Syndrome 12 |
|
Antecubital pterygium, Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus |
OMIM:616258 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of fingers, Upper limb phocomelia, Adactyly, Split hand, Br... |
ORPHA:989 |
Okamoto Syndrome |
|
Polydactyly, Abnormally large globe, Hip dysplasia, Syringomyelia, Tethered cord, Microcephaly, H... |
ORPHA:2729 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Erythroderma |
ORPHA:312 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Syndactyly, Congenital h... |
OMIM:263750 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Toe syndactyly, Synostosis of carpal bones, Macroceph... |
ORPHA:1507 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar vermis hypoplasia, Broad hallux, Holo... |
OMIM:615948 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Intrauterine growth retardation, Epicanthus |
OMIM:253290 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Median cleft lip, Solitary median maxillary central incisor, Cleft p... |
OMIM:301043 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Short toe, Finger syndactyly, Toe syndactyly, Bundle b... |
ORPHA:373 |
Hepatocellular Carcinoma |
|
Anemia, Liver abscess, Type II diabetes mellitus, Polycythemia, Thrombocytosis, Thrombocytopenia |
ORPHA:88673 |
Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Hallux valgus, Clinodactyly of the 5th finger, Brachydact... |
ORPHA:794 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pilomatrixoma, Downslanted palpebral fissures, Hyperactivity, Short stature, Corneal scarring, Hy... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pilomatrixoma, Downslanted palpebral fissures, Hyperactivity, Short stature, Corneal scarring, Hy... |
ORPHA:353277 |
Alkaptonuria |
|
Irregular hyperpigmentation, Abnormality of skin pigmentation, Prostatitis, Arthritis, Abnormalit... |
ORPHA:56 |
Carpenter Syndrome 2 |
|
Coxa vara, Cutaneous finger syndactyly, Short digit, Camptodactyly, Hitchhiker thumb, Aplasia of ... |
OMIM:614976 |
Phace Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Lens coloboma, Optic nerve hypoplasia, Microc... |
ORPHA:42775 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Polydactyly, Septo-optic dysplasia, Optic nerve hypoplasia, Holoprosencephaly, Abnor... |
ORPHA:95494 |
Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
8Q24.3 Microdeletion Syndrome |
|
Global brain atrophy, Short 5th finger, Short femur, Spina bifida occulta, Optic nerve hypoplasia... |
ORPHA:508488 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia, Disproportionate short-trunk short stature, Short stature, Abnormal circu... |
ORPHA:93315 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, Polydactyly, Hypoplasia of the brainstem, Tapered finger, Hallux valgus, Cerebral ... |
ORPHA:268261 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Micropenis, Symblepharon, Thick eyebrow, Telecanthus |
ORPHA:488434 |
Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Small hand, Heart murmur, Short 4th toe, Short lower li... |
OMIM:615873 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Pterygium, Urethral stricture, Urinary bladder inflammation, Ectropion, Recurrent skin infections... |
ORPHA:79403 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Postaxial foot polydactyly, Brachydactyly, Pos... |
ORPHA:2473 |
Leptospirosis |
|
Hepatitis, Skin rash, Uveitis, Pericarditis, Optic neuritis, Lymphadenopathy, Thrombocytopenia, C... |
ORPHA:509 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Chronic sinusitis, Recurrent otitis media |
OMIM:619607 |
Fontaine Progeroid Syndrome |
|
Pulmonary arterial hypertension, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplas... |
OMIM:612289 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:608836 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
Sickle Cell Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:603903 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Biliary hyperplasia, Hypersplenism, Cholangitis, Hepatosplenomegaly, Recurrent ... |
ORPHA:731 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Corneal keratic precipitates, Abnormal pupil morphology, Red eye, Posterior sy... |
ORPHA:209959 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Narrow joint spa... |
ORPHA:96182 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium |
OMIM:618469 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Neuroocular Syndrome |
|
Lagophthalmos, Synophrys, Lens coloboma, Iris coloboma, Blue irides, Distichiasis, Thick eyebrow,... |
OMIM:619539 |
Townes-Brocks Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplasia/Hypoplasia of the 3rd toe, Toe syndactyly... |
ORPHA:857 |
Hydroxykynureninuria |
|
Stomatitis, Abnormal repetitive mannerisms |
ORPHA:79155 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Wide mouth, Widely spaced teeth, Short philtrum, Submucous cleft soft palate, Narrow mouth, Denta... |
OMIM:300967 |
Idiopathic Panuveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Red eye, Conjunctival hyperemia |
ORPHA:280921 |
Cranioectodermal Dysplasia 2 |
|
Polydactyly, Clinodactyly, Macrocephaly, Hypertension, Syndactyly, Brachydactyly, Postaxial hand ... |
OMIM:613610 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Increased serum serotonin, Small intestine carcinoid, Lymphadenopathy |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Iron deficiency anemia, Increased serum serotonin, Small intestine carcinoid, Lymphadenopathy |
ORPHA:100077 |
Holoprosencephaly 1 |
|
Cerebellar hypoplasia, Alobar holoprosencephaly, Microphthalmia, Microcephaly, Ethmocephaly, Agen... |
OMIM:236100 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Downturned corners of mouth, Cleft soft palate, Smooth philtrum |
OMIM:619321 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
3Mc Syndrome 3 |
|
Preaxial polydactyly, Radioulnar synostosis, Clinodactyly |
OMIM:248340 |
Norrie Disease |
|
Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Abnormal repetitive mannerism... |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hypoplasia of the ... |
OMIM:175780 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Pterygium, Intrauterine growth retardation |
OMIM:225790 |
Ear-Patella-Short Stature Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Narrow mouth, Cleft palate, High, narrow palate, Thick ... |
ORPHA:2554 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy |
OMIM:614921 |
Papillorenal Syndrome |
|
Hypertension, Microphthalmia |
OMIM:120330 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... |
OMIM:602782 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus, Microcephaly |
ORPHA:322 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Synophrys, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Downslanted palpebral fissures, Popliteal pterygium, Short stature |
OMIM:119800 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:261197 |
Nail-Patella Syndrome |
|
Lester's sign, Toenail dysplasia, High anterior hairline, Abnormal iris pigmentation, Arthritis, ... |
ORPHA:2614 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Hip dysplasia, Agenesis of corpus callosum, Talipes equinovarus, Optic nerve h... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Hip dysplasia, Agenesis of corpus callosum, Talipes equinovarus, Optic nerve h... |
ORPHA:352665 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:98784 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatarsus adductus, Synda... |
OMIM:227330 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
2-3 finger syndactyly, Flared iliac wing, Postaxial hand polydactyly, Narrow greater sciatic notc... |
OMIM:312870 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Wide mouth, Deep philtrum, Microdontia, Submucous cleft hard palate, Macroglossia, Thin upper lip... |
OMIM:619194 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Renpenning Syndrome 1 |
|
Joint contracture of the hand, Camptodactyly, Clinodactyly of the 5th finger, Synostosis of the p... |
OMIM:309500 |
Cardiofaciocutaneous Syndrome |
|
High palate, Submucous cleft hard palate, Long philtrum |
ORPHA:1340 |
Mosaic Trisomy 16 |
|
Short forearm, Short femoral neck, Clinodactyly, Syndactyly, Single transverse palmar crease, Lar... |
ORPHA:1708 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pilomatrixoma, Hyperactivity, Short stature, Abnormal repetitive mannerisms, Compulsive behaviors... |
ORPHA:353281 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Plague |
|
Lymphadenitis, Endocarditis, Enterocolitis, Mydriasis, Erythema nodosum, Skin rash, Inflammatory ... |
ORPHA:707 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Macrocephaly, Syndactyly, Secondary microcephaly, Holoprosencephaly, Absent septum pellucidum, Dy... |
OMIM:618820 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Omodysplasia 1 |
|
Rhizomelia, Epicanthus, Blepharophimosis, Narrow palpebral fissure, Axillary pterygium, Dispropor... |
OMIM:258315 |
Porokeratosis |
|
Abnormality of skin pigmentation |
ORPHA:79358 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy |
ORPHA:228308 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the brainstem, Tapered finger, Hallux valgus,... |
ORPHA:480880 |
Mckusick-Kaufman Syndrome |
|
Postaxial hand polydactyly, Syndactyly, Mesoaxial hand polydactyly, Congenital hip dislocation |
OMIM:236700 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Camptodactyly of finger, Genu valgum, Finger swelling, Periventricular cysts, Joi... |
OMIM:309000 |
Zttk Syndrome |
|
High palate, Bifid uvula, Submucous cleft hard palate, Short philtrum, Downturned corners of mout... |
OMIM:617140 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Warburg-Cinotti Syndrome |
|
Sterile abscess, Epicanthus, Blepharophimosis, Narrow palpebral fissure, Corneal neovascularizati... |
OMIM:618175 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Symblepharon, Micropenis, Telecanthus |
OMIM:611929 |
Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
Tetraamelia Syndrome 1 |
|
Hypoplastic pelvis, Hydrocephalus, Microphthalmia |
OMIM:273395 |
Marden-Walker Syndrome |
|
Pyloric stenosis, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Cleft palate |
ORPHA:2461 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Enamel hypoplasia, High palate, Cleft soft palate, Wide mouth, Delayed eruption of teeth, Deep ph... |
OMIM:619503 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Rabson-Mendenhall Syndrome |
|
Polydactyly, Cardiomyopathy |
ORPHA:769 |
Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa va... |
ORPHA:3107 |
Holoprosencephaly 2 |
|
Cerebellar hypoplasia, Semilobar holoprosencephaly, Alobar holoprosencephaly, Holoprosencephaly, ... |
OMIM:157170 |
Loeys-Dietz Syndrome 2 |
|
Protrusio acetabuli, Joint contracture of the hand, Hydrocephalus, Camptodactyly, Brachydactyly, ... |
OMIM:610168 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Sparse lateral eyebrow, Pineal cyst, Repetitive compulsive behavior, Recurrent otitis media, Abno... |
ORPHA:513456 |
Mowat-Wilson Syndrome |
|
Asplenia, Broad eyebrow, Iris coloboma, Dysphagia, Septate vagina, Telecanthus, Horizontal eyebro... |
ORPHA:2152 |
Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
Peters-Plus Syndrome |
|
Square pelvis bone, Short palm, Short toe, Hydrocephalus, Abnormal pelvic girdle bone morphology,... |
OMIM:261540 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Epicanthus, Broad eyebrow, Iris coloboma, Dysphagia, Septate vagina, Telecanthus, Recur... |
ORPHA:261552 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Short stature, Bifid scrotum, Broad eyebrow, Webbed penis, Hydrocele testis, Abnormal r... |
ORPHA:261537 |
Viss Syndrome |
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High palate, Cleft soft palate, Bifid tongue, Bifid uvula, Macroglossia, Intestinal malrotation, ... |
OMIM:619472 |
Osteogenesis Imperfecta |
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Rhizomelia, Short stature, Corneal opacity, Growth delay, Dysphagia, Thrombocytopenia, Intrauteri... |
ORPHA:666 |
Fraser Syndrome 3 |
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Short toe, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Yellow Fever |
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Pancreatic hyperplasia, Skin rash, Neutrophilia, Acute pancreatitis, Leukocytosis, Thrombocytopenia |
ORPHA:99829 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Disinhibition, Repetitive compulsive behavior, Polyphagia, Agitation |
OMIM:607485 |
Fraser Syndrome 2 |
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Cutaneous syndactyly |
OMIM:617666 |
Tolchin-Le Caignec Syndrome |
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High palate, Narrow mouth, Submucous cleft hard palate |
OMIM:618971 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
Mucopolysaccharidosis Type 3 |
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Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... |
ORPHA:581 |
Cutis Marmorata Telangiectatica Congenita |
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Abnormality of the upper limb, Finger syndactyly, Toe syndactyly, Short lower limbs, Telangiectas... |
ORPHA:1556 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Broad first metatarsal, Polydactyly, Bidirectional shunt, Pulmonary arterial hypertension, Aquedu... |
OMIM:619534 |
Robinow Syndrome |
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Bifid distal phalanx of the thumb, Radioulnar dislocation, Macrocephaly, Syndactyly, Brachydactyl... |
ORPHA:97360 |
Doors Syndrome |
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Triphalangeal thumb, Short 5th finger, Abnormal finger morphology, Aplasia/Hypoplasia of the phal... |
ORPHA:79500 |
Acute Liver Failure |
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Hepatitis, Skin rash, Adrenal insufficiency, Agitation, Thrombocytopenia |
ORPHA:90062 |
Scalp-Ear-Nipple Syndrome |
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2-3 toe syndactyly, Supraventricular tachycardia, Finger syndactyly, 3-4 finger cutaneous syndact... |
OMIM:181270 |
Lymphangioleiomyomatosis |
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Abnormality of skin pigmentation, Retinal hamartoma, Lymphadenopathy, Ungual fibroma, Abnormal mo... |
ORPHA:538 |
Waardenburg Syndrome, Type 2D |
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Heterochromia iridis, Telecanthus |
OMIM:608890 |
Mucolipidosis Ii Alpha/Beta |
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Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252500 |
Coffin-Siris Syndrome 12 |
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Hip subluxation, Noncommunicating hydrocephalus, Heart murmur, Macrocephaly, Radioulnar synostosi... |
OMIM:619325 |
Treacher-Collins Syndrome |
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Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
Childhood Absence Epilepsy |
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Attention deficit hyperactivity disorder, Punding |
ORPHA:64280 |
Gardner Syndrome |
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Pilomatrixoma, Abnormality of skin pigmentation, Prostate cancer, Adrenocortical carcinoma, Neopl... |
ORPHA:79665 |
Frontofacionasal Dysplasia |
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Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Short long bone, Brachydactyly, Short clavicles, Postaxial hand polydactyly, Cone-shaped epiphysi... |
OMIM:617088 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Submucous cleft hard palate |
OMIM:618891 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
Specc1L-Related Hypertelorism Syndrome |
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Short toe, Finger syndactyly, Clinodactyly of the 5th finger, Arrhythmia, Brachydactyly, Umbilica... |
ORPHA:1519 |
Trichorhinophalangeal Syndrome, Type Ii |
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Hip subluxation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Short metacarpa... |
OMIM:150230 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Bifid uvula, Short philtrum, Submucous cleft soft palate, Downturned corners of mouth, Thin vermi... |
ORPHA:500150 |
Cystic Fibrosis |
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Bronchiectasis, Chronic sinusitis, Hepatosplenomegaly, Recurrent pneumonia, Male infertility, Pan... |
OMIM:219700 |
Restrictive Dermopathy 1 |
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Natal tooth, Submucous cleft hard palate, Narrow mouth, Stillbirth, Neonatal death |
OMIM:275210 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal pupil morphology, Alopecia, Abnormality of skin pigmentation, Aplasia/Hypoplasia of the ... |
ORPHA:286 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:365 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Genu varum, Finger syndactyly |
ORPHA:1969 |
Menkes Disease |
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Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
Wiedemann-Rautenstrauch Syndrome |
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Natal tooth, Hypodontia, Short philtrum, Submucous cleft soft palate, Thin upper lip vermilion, D... |
ORPHA:3455 |
Beckwith-Wiedemann Syndrome |
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Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:130650 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Neoplasm of the tongue, Bifid uvula, Submucous cleft hard palate |
ORPHA:3047 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Cleft palate, Bifid uvula, Submucous cleft hard palate, Thick vermilion border |
ORPHA:2636 |
Tropical Endomyocardial Fibrosis |
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Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Mowat-Wilson Syndrome |
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Aplasia/Hypoplasia of the cerebral white matter, Abnormal corpus callosum morphology, Microphthal... |
OMIM:235730 |
Kyphomelic Dysplasia |
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Disproportionate short stature, Pterygium |
OMIM:211350 |
Exercise-Induced Malignant Hyperthermia |
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Thrombocytopenia |
ORPHA:466650 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia |
OMIM:603457 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Cleft upper lip, High palate, Long philtrum, Abnormality of the anus, Bifid uvula, Submucous clef... |
OMIM:607872 |
Nmda Receptor Encephalitis |
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Neoplasm of the thymus, Agitation, Abnormal repetitive mannerisms, Ovarian teratoma, Testicular t... |
ORPHA:217253 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Antecubital pterygium, Disproportionate short-limb short stature, Recurrent otitis media |
ORPHA:2502 |
Beckwith-Wiedemann Syndrome |
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Enlarged kidney, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenome... |
ORPHA:116 |
Williams Syndrome |
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Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... |
ORPHA:904 |
Restrictive Dermopathy |
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Microcolon, Narrow mouth, Submucous cleft hard palate, Natal tooth |
ORPHA:1662 |
Kanzaki Disease |
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Tortuosity of conjunctival vessels |
OMIM:609242 |
Singleton-Merten Syndrome 1 |
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Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
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Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |