| Lipedema |
|
Edema |
OMIM:614103 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Isolated Cleft Lip |
|
Small for gestational age, Polyhydramnios, Velopharyngeal insufficiency, Abnormal Eustachian tube... |
ORPHA:199302 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Cleft palate, Atres... |
ORPHA:52429 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Overfolded helix, Cleft palate, Abnormal antihelix morphology, Large earlobe, Micr... |
ORPHA:79113 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Sensorineural hearing impairment, Male infertility, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... |
OMIM:301101 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... |
OMIM:611102 |
| Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... |
OMIM:609166 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Recurrent otitis media, Failure to thrive, Abnormal Eustachian tube morphology, Cleft palate |
ORPHA:513456 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Edema |
OMIM:189800 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Chronic otitis media, Male infertility, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth |
OMIM:183300 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... |
ORPHA:949 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren... |
OMIM:612444 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... |
OMIM:240300 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Sensorineural h... |
ORPHA:2789 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, High palate, Skin rash, Abnormal auditory evoked potentials |
OMIM:617523 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:618948 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Cleft palate, H... |
OMIM:130720 |
| Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Intestinal malrotation... |
OMIM:113650 |
| 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 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614874 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Arthrogryposis, Distal, Type 2A |
|
Small for gestational age, Polyhydramnios, Abnormal auditory evoked potentials, Hearing impairmen... |
OMIM:193700 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion |
OMIM:242500 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614935 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
| Trisomy 8P |
|
Posteriorly rotated ears, Cryptorchidism, Malrotation of small bowel, Aplasia/Hypoplasia of the t... |
ORPHA:264450 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy |
OMIM:616881 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Conducti... |
OMIM:244400 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Chronic sinusitis, Male infertility |
OMIM:619607 |
| Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Cryptorchidism, Optic atrophy, Uveitis, C... |
ORPHA:90321 |
| Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility, Intestinal malrotation, Bronchiect... |
ORPHA:244 |
| Trisomy 10P |
|
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Pulmonary edema, Polyhydramnios, Edema, Sensorineural hearin... |
ORPHA:79330 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Malabsorptio... |
ORPHA:581 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... |
ORPHA:101085 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Atopic dermatitis |
ORPHA:3240 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Erectile dysfunction, EEG abnormality |
ORPHA:206448 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Cleft palate, High palate, Low-set ears, Fai... |
ORPHA:401973 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... |
OMIM:617091 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Macroorchidism, Acne, Male infertility, Oligozoospermia |
ORPHA:3000 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
| 47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Low-set ears, Macroorchidism |
ORPHA:8 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Decrea... |
OMIM:133540 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Recurrent infections of the middle ear, Hearing impairment |
ORPHA:217622 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619949 |
| Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Joint swelling, High palate, Atresia of the external auditory canal, Lo... |
OMIM:618175 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Small for gestational ag... |
ORPHA:125 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Duode... |
OMIM:619381 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Hear... |
OMIM:227650 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Decreased testicular size, Male infertility |
OMIM:618086 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Low-set, posteriorly rotated ears, Male infertility, Streak ovary, Unilateral cryptorchidism, Bil... |
ORPHA:1772 |
| Noonan Syndrome 1 |
|
Male infertility, Failure to thrive in infancy, Lymphedema, Cryptorchidism, Sensorineural hearing... |
OMIM:163950 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... |
ORPHA:99889 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Oli... |
ORPHA:85450 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea |
ORPHA:99429 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Cystic Fibrosis |
|
Male infertility, Meconium ileus, Rectal prolapse, Recurrent pneumonia, Ileus, Bronchiectasis, De... |
OMIM:219700 |
| Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis |
OMIM:236680 |
| Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
| Cardiomyopathy, Dilated, 1J |
|
Sensorineural hearing impairment |
OMIM:605362 |
