Gene Summary

biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BLOC-1,  BLOC-1 subunit,  Pldn

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/hair pigmentation Bloc1s6em1(IMPC)Mbp HOM Early adult 4.68×10-15
abnormal spleen morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
increased circulating serum albumin level Bloc1s6em1(IMPC)Mbp HOM Early adult 7.59×10-06
hyperactivity Bloc1s6em1(IMPC)Mbp HOM   Early adult 5.73×10-05
enlarged heart Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
improved glucose tolerance Bloc1s6em1(IMPC)Mbp HOM Early adult 8.54×10-05
abnormal eye morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.



14 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Bloc1s6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Bloc1s6 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus, Recurr... OMIM:614171

The table below shows human diseases predicted to be associated to Bloc1s6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism, Macular hypoplasia, Impaired ADP-induced... OMIM:614075
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Ocular albinism, Fair hair, Impaired ADP-induced platelet aggre... OMIM:608233
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism, Abnormal bleeding, Bruising susceptibility, Absent platelet dense gran... OMIM:614073
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Pericardial effusion, Inflammatory abnormality of the eye, Hemiplegia/hemiparesis... ORPHA:36412
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Bruising ... OMIM:619172
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism, Post-partum hemorrhage, Impaired platelet aggregation, Bruising suscep... OMIM:614076
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregati... OMIM:614074
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Abnormality of the kidney, Impaired ADP-induced platelet aggreg... OMIM:155100
Chediak-Higashi Syndrome
Ocular albinism, Iris hypopigmentation, Spontaneous, recurrent epistaxis, Abnormal dense granules... OMIM:214500
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Alopecia of scalp, ... OMIM:617294
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Sparse scalp hair, Trichorrhexis nodosa, Aminoacidur... ORPHA:634
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Free Sialic Acid Storage Disease
Spasticity, Abnormality of skin pigmentation, Abnormal pyramidal sign, Seizure, Hydrops fetalis, ... ORPHA:834
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr... OMIM:613101
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent... OMIM:614072
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus, Recurr... OMIM:614171
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... OMIM:619130
Bronchopulmonary Dysplasia
Hyperoxemia, Tracheobronchomalacia, Pulmonary sequestration, Small for gestational age, Abnormal ... ORPHA:70589
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys... ORPHA:60033
Hermansky-Pudlak Syndrome 8
Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Impaired ... OMIM:614077
Hermansky-Pudlak Syndrome
Abnormality of thrombocytes, Hypopigmentation of the skin, Melanocytic nevus, Neutropenia, Weight... ORPHA:79430
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Hepatosplenomegaly, Splenomegaly, Alopecia, Increased B cell count, Absent i... OMIM:615559
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ... ORPHA:1164
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Decreased circulating tota... OMIM:300400
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Macrotia, Recurrent respiratory infections, Ocular al... OMIM:617050
Polyhydramnios, Optic atrophy, Fair hair, Hepatosplenomegaly, Hirsutism, Thrombocytopenia, Decrea... ORPHA:79330
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... OMIM:614201
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Spasticity, Seizure, Iris hypopigmentation, Failure to thrive, Catar... ORPHA:67048
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... OMIM:173590
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides OMIM:103500
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity, Recurrent sinusitis, Rec... OMIM:615707
Oculocerebral Hypopigmentation Syndrome, Preus Type
Seizure, Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Abnormal renal tub... ORPHA:2720
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Sensorineural hearing impairment, Recurrent respiratory infections, Weight l... ORPHA:3226
Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abnormal bleeding... ORPHA:238459
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Sensorineural hearing impairment, Post-partum hemorrhage, Impaired platelet aggregation, Thromboc... OMIM:124900
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp... ORPHA:79127
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism, Abnormality of extrapyramidal motor function, Inco... ORPHA:352723
Myh9-Related Disease
Renal insufficiency, Sensorineural hearing impairment, Presenile cataracts, Spontaneous, recurren... ORPHA:182050
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Macrothrombocytopenia, Epistaxis, G... OMIM:231200
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, ... OMIM:613490
Systemic Capillary Leak Syndrome
Pedal edema, Pulmonary edema, Weight loss, Abnormal renal tubule morphology, Pericarditis, Pleura... ORPHA:188
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Vici Syndrome
T lymphocytopenia, Ocular albinism, Hypopigmentation of the fundus, Decreased proportion of CD4-p... OMIM:242840
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:609821
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Hellp Syndrome
Hemolytic anemia, Pulmonary edema, Cerebral hemorrhage, Acute kidney injury, Hemoglobinuria, Micr... ORPHA:244242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... ORPHA:231393
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Seizure, Subcutaneous he... OMIM:603585
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Respiratory insufficiency, Anemia, Seizure, Emphysema, Failure to thrive in infancy ORPHA:436
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Spasticity, Sensorineural hearing impairment, Abnormal pyramidal sign, Spastic tetraplegi... ORPHA:2719
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... OMIM:267450
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Griscelli Syndrome
Leukopenia, Spasticity, Abnormal eyebrow morphology, Pedal edema, Seizure, Premature graying of h... ORPHA:381
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Cardiomegaly OMIM:227150
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Inability to walk, Pericardial effusion, Iris hypopigmentation, Larg... ORPHA:167
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Hydrops fetalis, Hematuria, Abnormality of the pul... ORPHA:90308
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Abnormally lo... OMIM:242700
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Eczema, Impaired platelet... OMIM:617443
Bleeding Disorder, Platelet-Type, 16
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat... OMIM:187800
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Renal cell carcinoma, Abnormality of retinal pigmentation,... ORPHA:122
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Emphysema, Ectopia lent... OMIM:604571
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Sensorineural hearing impairment, Premature graying of hair, Ocular albinism, ... OMIM:611584
Wild Type Attr Amyloidosis
Pedal edema, Abnormal pulmonary interstitial morphology, Pulmonary edema, Nephrotic syndrome, Wei... ORPHA:330001
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Recurrent respiratory infections, Fulminant hepatitis, Reduced natural k... OMIM:308240
Common Variable Immunodeficiency
Hemolytic anemia, Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibod... ORPHA:1572
Mixed Connective Tissue Disease
Keratoconjunctivitis sicca, Pericarditis, Myositis, Gastritis, Prolonged bleeding time, Splenomeg... ORPHA:809
Hydrops fetalis, Seizure, Decreased lymphocyte proliferation in response to mitogen, Decreased ci... ORPHA:79329
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Acute tubulointerstitial nephritis, Pleural effusion, Glomerulonephritis, ... ORPHA:340
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Bronchiectasis, Asthma, Increased circulating IgG level, Pulmonary bulla, Decrea... OMIM:619632
Riboflavin Transporter Deficiency
Respiratory insufficiency, Seizure, Progressive hearing impairment, Iris hypopigmentation, Myoclo... ORPHA:97229
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... ORPHA:70587
Bleeding Disorder, Platelet-Type, 22
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage OMIM:618462
Japanese Encephalitis
Cerebral edema, Respiratory paralysis, Irregular respiration, Choreoathetosis, Abnormal pattern o... ORPHA:79139
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Lung adenocarcinoma, Emphysema, Pulmon... OMIM:618913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Inability to walk, Eyelid myoclonus, Myoclonic status epilepticus... ORPHA:2590
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Enterocolitis, Reduced natural killer cell activity, S... OMIM:616050
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Alpha-1-Antitrypsin Deficiency
Hepatitis, Nephrotic syndrome, Emphysema ORPHA:60
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Bruising s... OMIM:601399
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... OMIM:614009
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Seizure, Spastic gait, Spastic d... ORPHA:251282
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Seizure, Prolonged bleeding after surgery, Petechiae, As... ORPHA:274
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Spasticity, Seizure, Premature graying of hair, Optic atrophy, Rigi... ORPHA:33445
Wiskott-Aldrich Syndrome
Glomerulopathy, Hypoplasia of the thymus, Eczema, Prolonged bleeding time, Hematemesis, Thrombocy... ORPHA:906
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... OMIM:614493
Cocaine Intoxication
Pneumothorax, Focal-onset seizure, Glomerulonephritis, Colitis, Subarachnoid hemorrhage, Wheezing... ORPHA:90068
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Renal insufficiency, Renal dysplasia, Stage 5 chronic kidney disease, Retinal... OMIM:615993
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Asthma, Ec... OMIM:607271
Pneumothorax, Optic atrophy, Retinal hamartoma, Renal angiomyolipoma, Lymphedema, Chylopericardiu... ORPHA:538
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... OMIM:139090
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Sarcoidosis, Susceptibility To, 1
Chorioretinitis, Bronchiectasis, Pericardial effusion, Pleural effusion, Splenomegaly, Abnormal p... OMIM:181000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Infectious encephalitis, Seizure, Reduced natural killer cell activity, Skin ... OMIM:603553
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Wiskott-Aldrich Syndrome
Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, P... OMIM:301000
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I... OMIM:314050
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Griscelli Syndrome Type 1
Retinopathy, Seizure, Premature graying of hair, Iris hypopigmentation, Ataxia, White hair, Hyper... ORPHA:79476
Immunodeficiency 81
Reduced natural killer cell activity, Petechiae, Impaired neutrophil chemotaxis, Skin rash, Reduc... OMIM:619374
Ethylene Glycol Poisoning
Cerebral edema, Seizure, Pulmonary edema, Decreased urine output, Renal tubular epithelial necros... ORPHA:31826
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Seizure, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, O... ORPHA:411515
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Impaired neu... ORPHA:2968
Guanidinoacetate Methyltransferase Deficiency
Chorea, Seizure, Abnormal head movements, Abnormality of extrapyramidal motor function, Generaliz... ORPHA:382
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Seizure, Bronchiectasis, Optic atrophy, Pulmonary hypoplasia, Interstitial emphysema, Lymphopenia... OMIM:619708
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Acute kidney injury, Skin rash, Decreased urine output, Hypoxemia, Pleural effus... ORPHA:542323
Lymphatic Malformation 7
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Nonimmune hydrop... OMIM:617300
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Immunodeficiency 48
Panhypogammaglobulinemia, Failure to thrive, Absence of CD8-positive T cells, Pneumonia, Eczemato... OMIM:269840
Usher Syndrome Type 3
Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Astigmatism, Cataract, Vestibula... ORPHA:231183
Immunodeficiency 104
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Otitis medi... OMIM:608971
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia, Pa... ORPHA:70578
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Seizure, Emphysema OMIM:210050
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... OMIM:193400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Pneumonia, Hypertonia, Bilateral tonic-clonic seizure with generalized onset ORPHA:1083
Usher Syndrome Type 1
Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Cataract, Vestibular hypofunctio... ORPHA:231169
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells, Stomatitis, Emphysema OMIM:618307
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Hemochromatosis, Type 1
Alopecia, Splenomegaly, Cirrhosis, Glucose intolerance, Hepatocellular carcinoma, Hyperpigmentati... OMIM:235200
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti... OMIM:247800
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Maculopapular exanthema, Infectious encephalitis, Seizure, Reduced natural killer cell ac... ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Ermine Phenotype
Irregular hyperpigmentation, Sensorineural hearing impairment, Ocular albinism, Iris hypopigmenta... ORPHA:999
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Somatic sensory dysfunction, Aspiration pneumonia, Inability t... ORPHA:90117
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof... OMIM:613752
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Sensorineural hearing impairment, Failure to thrive, Optic disc hypoplasia, Aspiration pneumonia OMIM:609528
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation OMIM:173420
Alpha-Heavy Chain Disease
Alopecia, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly ORPHA:100025
Hemochromatosis, Type 2B
Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Increased cir... OMIM:613313
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Sinusitis, Otitis media, Decr... OMIM:312863
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Fabry Disease
Respiratory insufficiency, Glomerulopathy, Optic atrophy, Corneal dystrophy, Hearing impairment, ... ORPHA:324
Bronchiectasis, Pleural effusion, Eosinophilia, Pneumonia, Abnormality on pulmonary function test... ORPHA:1163
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hirsutism, Hepatome... OMIM:612526
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
Purine Nucleoside Phosphorylase Deficiency
Spastic diplegia, Recurrent urinary tract infections, Decreased lymphocyte proliferation in respo... OMIM:613179
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... ORPHA:240103
Abnormal conjunctiva morphology, Pneumothorax, Bronchiectasis, Keratoconjunctivitis sicca, Pleura... ORPHA:797
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... OMIM:603552
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Seizure, Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respirat... OMIM:619466
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai... ORPHA:79477
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i... OMIM:607594
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Hyperpigmentation of the skin, Sple... ORPHA:75563
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Huntington Disease-Like 1
Gait ataxia, Chorea, Poor fine motor coordination, Seizure, Weight loss, Abnormal head movements,... ORPHA:157941
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... OMIM:271500
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Giant melanosomes in melanocytes, Abnormal macular morphology, Ocular ... ORPHA:54
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Scorpion Envenomation
Paresthesia, Seizure, Pulmonary edema, Mydriasis, Ketonuria, Acute kidney injury, Glycosuria, Myo... ORPHA:466677
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Synophrys, Asymmetric septal hypertrophy, Hirsutism, Hepatomegaly, Coarse hair, Ca... OMIM:252920
Congenital Disorder Of Glycosylation, Type Iic
Febrile seizure (within the age range of 3 months to 6 years), Periodontitis, Widow's peak, Neutr... OMIM:266265
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Exertional dyspnea, Pulmonary edema, Hemothorax,... ORPHA:199241
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Isolated Agammaglobulinemia
Anemia, Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthrit... ORPHA:229717
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Spasticity, Seizure, Subretinal pigment epithelium hemorrhage, Emphysema, Failure to thrive, Coar... ORPHA:357074
Conjunctivitis, Anemia, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflam... ORPHA:3392
Idiopathic Achalasia
Bronchitis, Weight loss, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... OMIM:601457
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag... OMIM:605735
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Optic atrophy, Small for gestational age, Rigidity, Myoclonus, Respiratory ... OMIM:619057
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... OMIM:601709
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chro... OMIM:616726
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocy... OMIM:269920
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Rod-cone dystrophy, Recurrent bronchitis, Chronic sinusitis, High-frequency hearing impairment, O... OMIM:300455
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea ORPHA:141152
De Barsy Syndrome
Abnormal fundus fluorescein angiography, Recurrent sinopulmonary infections, Emphysema, Large ear... ORPHA:2962
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Vitiligo, Thrombocytopenia, Pneumonia, Splenomegaly... OMIM:614700
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Autoerythrocyte Sensitization Syndrome
Hematuria, Intracranial hemorrhage, Bruising susceptibility, Autoimmune thrombocytopenia, Abnorma... ORPHA:324636
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Bronchiectasis, Decreased circulating antibody level... OMIM:617514
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Polyhydramnios, Erratic myoclonus, Seizure, Recurrent aspiration pneumonia, Spastic tetraplegia, ... OMIM:619971
Hemochromatosis, Type 4
Anemia, Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis... OMIM:606069
Carcinoma Of Esophagus
Lymphadenopathy, Dysphagia ORPHA:70482
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recur... OMIM:618806
Spasticity, Seizure, Premature graying of hair, Decreased circulating antibody level, Gait distur... ORPHA:100
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... OMIM:615294
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Low-set, posteriorly rotated ears, Multiple cafe-au-lait spots, Abnormal... ORPHA:638
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Atopic dermatitis, Weight loss, Asthma, Hypoxemia, Increased circulating IgE l... ORPHA:2902
Chorioretinitis, Pneumothorax, Productive cough, Scleritis, Pericarditis, Pleural effusion, Pneum... ORPHA:31204
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Ellis Van Creveld Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the lungs, Abnormality of the kidney, Renal hypoplasi... ORPHA:289
Sitosterolemia 1
Stomatocytosis, Anemia, Corneal arcus, Arthritis, Abnormal bleeding, Reticulocytosis, Impaired pl... OMIM:210250
Ogden Syndrome
Pulmonary hypoplasia, Eczema, Pulmonary artery stenosis, Peripheral pulmonary artery stenosis, Gl... OMIM:300855
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Hyposthenuria, Hyperaldosteronism, Paresthesia, Seizure, Macrotia, Small for gest... OMIM:241200
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infe... OMIM:226990
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly... OMIM:616860
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent bronchitis, Recur... OMIM:300853
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... ORPHA:64743
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia... OMIM:617638
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing, Waddling gait ORPHA:97244
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... OMIM:614069
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent upper respiratory tract infections, Neonatal respiratory distress, Low-set ear... OMIM:300209
Loeys-Dietz Syndrome 4
Pneumothorax, Eosinophilic infiltration of the esophagus, Torticollis, Bruising susceptibility, E... OMIM:614816
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Orthopnea, Dyspnea, Peripheral edema, Pulmonary venous hypertension, Recurrent r... ORPHA:75249
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Large for gestational age, Microcornea, Corneal opacity, Recurrent res... ORPHA:2432
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... ORPHA:158061
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Microtia, Ocular albinism, Myoclonus, Cupped ear ORPHA:1352
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Essential Thrombocythemia
Abnormality of thrombocytes, Paresthesia, Abnormal platelet morphology, Prolonged bleeding time, ... ORPHA:3318
Meier-Gorlin Syndrome 4
Microtia, Emphysema, Failure to thrive, Low-set ears, Breast hypoplasia OMIM:613804
Whim Syndrome
Lymphadenitis, Poor fine motor coordination, Respiratory tract infection, Seizure, Bronchiectasis... ORPHA:51636
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Pulmonary edema, Pleural effusion, Increased circulating gona... ORPHA:64739
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Hypertonia OMIM:254120
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, 3-Methylglutaconic aciduria, Spasticity, Polyhydramnios, Zonular cataract, Seizure, O... OMIM:616271
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Dilated cardiomyopathy, Increased circulating ferritin concentration, He... OMIM:602390
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Abnormality of retinal pigmentation, Lymphadenopathy, Hepatomegaly, Ca... ORPHA:858
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Pneumonia, Seizure ORPHA:85179
Macs Syndrome
Alopecia, Sparse eyebrow, Recurrent aphthous stomatitis, Decreased body weight, Bronchiectasis, B... OMIM:613075
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Ataxia, Vertigo ORPHA:71518
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Hypopigmented skin patches, Lymph... ORPHA:2584
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Hemophilia B
Spontaneous, recurrent epistaxis, Hematuria, Intracranial hemorrhage, Delayed onset bleeding, Cep... ORPHA:98879
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Astigmatism, Hypoplasia of the fovea, Hypopigmentation of hair, Blue i... OMIM:203100
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Spasticity, Aspiration pneumonia, Seizure, Bronchiectasis, Optic atrop... OMIM:618253
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... OMIM:619220
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ast... ORPHA:217390
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hyperbilirubinemia, Increased serum bile acid concentration, Cholestasis, Hepatomegaly,... OMIM:620010
Pseudohypoparathyroidism Type 1A
Conjunctivitis, Low urinary cyclic AMP response to PTH administration, Paresthesia, Sensorineural... ORPHA:79443
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sin... OMIM:616576
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism OMIM:300500
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Abnormal antihelix morphology, Cafe-au-lait spot, Seizure, Hand tremor, Spastic paraparesis, Fron... ORPHA:3041
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Obesity ORPHA:177910
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Oculocutaneous Albinism Type 1
Generalized hypopigmentation of hair, Depigmented fundus, Generalized hypopigmentation, White eye... ORPHA:352731
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Choreoathetosis, Cholesteatoma, Oxygen desaturation on exertion, Crackles, Difficulty walking, Wh... OMIM:610978
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... ORPHA:169160
1P36 Deletion Syndrome
Conductive hearing impairment, Optic atrophy, Ocular albinism, Hemiplegia/hemiparesis, Horizontal... ORPHA:1606
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated carcinoembryonic antigen level, Oral-pharyngeal d... ORPHA:100083
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Lujo Hemorrhagic Fever
Cerebral edema, Crackles, Oliguria, Thrombocytopenia, Nonproductive cough, Microscopic hematuria,... ORPHA:319213
Glycogen Storage Disease Of Heart, Lethal Congenital
Seizure, Pulmonary edema, Pericardial effusion, Enlarged kidney, Respiratory distress, Pleural ef... OMIM:261740
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hyperaldosteronism, Pulmonary edema, Myoclonic spasms, Hyperpr... ORPHA:73224
Prader-Willi Syndrome
Failure to thrive in infancy, Poor fine motor coordination, Hypopigmentation of the skin, Hypoven... OMIM:176270
Acute Interstitial Pneumonia
Reduced hematocrit, Nodular pattern on pulmonary HRCT, Bronchiectasis, Pericardial effusion, Subp... ORPHA:79126
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia ORPHA:99000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:600649
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Weight loss, Increased c... ORPHA:723
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Gait imbalance, Seizure, Iris hypopigmentation, Ataxia, Hypopigment... ORPHA:411511
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair OMIM:269600
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Intestinal bleeding, Microcytic anemia ORPHA:1059
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Anemia, Abnormal pulmonary interstitial morphology, Slender build, Sei... OMIM:613658
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Wyburn-Mason Syndrome
Retinal vascular malformation, Seizure, Cerebral hemorrhage, Cerebral palsy, Hemiparesis, Iris hy... ORPHA:53719
Riddle Syndrome
Poor hand-eye coordination, Recurrent sinusitis, Pneumonia, Decreased circulating IgG level, Bron... ORPHA:420741
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Histiocytoid Cardiomyopathy
Megalocornea, Seizure, Pulmonary edema, Optic atrophy, Hemiplegia, Renal cyst, Failure to thrive,... ORPHA:137675
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Pulmonary edema, Conjunctival icterus, Abnormal bleeding, Per... ORPHA:57777
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Sensorineural hearing impairment, Seizure, Inability to walk, Retinal dystrophy, Generalized myoc... OMIM:616756
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... ORPHA:1303
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Pedal edema, Hypopigmentation of the skin, Seizure, Small for gestational age, Iris hypopigmentat... ORPHA:98754
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalb... OMIM:618805
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism ORPHA:370091
Huntington Disease-Like 3
Chorea, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Sei... ORPHA:157946
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Spasticity, Seizure, Pulmonary edema, Ketonuria, Small for gestational... OMIM:220111
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Oligohydramnios, Emphysema, Overgrowth, Recurrent respiratory infections OMIM:219100
Liver Disease, Severe Congenital
Poor fine motor coordination, Aminoaciduria, Eczema, Hyperinsulinemic hypoglycemia, Cholesteatoma... OMIM:619991
Immunodeficiency 102
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Recurre... OMIM:301082
Hyperlysinemia, Type I
Hyperlysinemia, Anemia, Hyperactivity OMIM:238700
Avian Influenza
Conjunctivitis, Leukopenia, Myelitis, Pneumothorax, Infectious encephalitis, Productive cough, He... ORPHA:454836
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Gait imbalance, Seizure, Iris hypopigmentation, Hypopigmentation of... ORPHA:98795
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements, Involuntary movements OMIM:616939
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Gait imbalance, Seizure, Iris hypopigmentation, Myoclonus, Ataxia, ... ORPHA:98794
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Noonan Syndrome
Melanocytic nevus, Sensorineural hearing impairment, Lymphedema, Coarse hair, Aplasia of the semi... ORPHA:648
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Pulmonary hypoplasia, Emphysema, Multiple bladder diverticula, Recurren... OMIM:613177
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Pedal edema, Hypopigmentation of the skin, Seizure, Small for gestational age, Iris hypopigmentat... ORPHA:98793
Immunodeficiency 61
Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis... OMIM:300310
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... OMIM:615513
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Pedal edema, Hypopigmentation of the skin, Seizure, Small for gestational age, Iris hypopigmentat... ORPHA:177904
Angelman Syndrome
Hypopigmentation of the skin, Seizure, Optic atrophy, Optic disc pallor, Fair hair, Iris hypopigm... ORPHA:72
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased lymphocyte proliferation in response to mitogen, Defective T cell proli... OMIM:618534
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Pedal edema, Hypopigmentation of the skin, Seizure, Small for gestational age, Iris hypopigmentat... ORPHA:177901
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Failure to thrive, Upper ai... ORPHA:60032
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatosplenomegaly, Thrombocytopenia, Pulmonar... ORPHA:79124
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Congenital hemolytic anemia, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Rod-cone dystrophy, Aspiration pneumonia, Seizure, Weight loss, Inability to walk, Ti... ORPHA:216866
Wolfram Syndrome 2
Sensorineural hearing impairment, Optic atrophy, Decreased circulating antibody level, Neurogenic... OMIM:604928
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Generalized hirsutism, Abnormal heart val... ORPHA:93476
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the liver, Abnormality of the pancr... ORPHA:543
Conductive hearing impairment, T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell... ORPHA:443811
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Respiratory failure, Exertional dyspnea, Late inspira... ORPHA:2302
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Papillary renal cell carcinoma, Absent eyelashes, Alopecia universalis... ORPHA:363618
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Elevated... OMIM:616828
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Decreased lymphocyt... ORPHA:911
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Farber Disease
Respiratory insufficiency, Abnormal conjunctiva morphology, Macular degeneration, Hepatosplenomeg... ORPHA:333
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Ankle clonus, Aspiration pneumonia, Shuffling gait,... ORPHA:52368
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid conc... ORPHA:2298
Meier-Gorlin Syndrome 1
Incomplete partition of the cochlea type II, Microtia, Small for gestational age, Long eyelashes,... OMIM:224690
Primary Ciliary Dyskinesia
Asplenia, Conductive hearing impairment, Bronchiectasis, Productive cough, Airway obstruction, Wh... ORPHA:244
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Pericardial effusion, Respiratory distress, Dyspnea, Ascites OMIM:115197
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Aspiration pneumonia, Seizure, Episodic tachypnea, Myoclonic spasms... ORPHA:79264
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Prader-Willi-Like Syndrome
Pedal edema, Hypopigmentation of the skin, Seizure, Small for gestational age, Iris hypopigmentat... ORPHA:398073
Alpha-Mannosidosis, Adult Form
Clumsiness, Pancytopenia, Hepatosplenomegaly, Ataxia, Cataract, Pneumonia, Corneal opacity, Oligo... ORPHA:309288
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Microvesicular hepatic steatosis, Impaired gluconeogenesis, Decreased plasma carn... OMIM:212140
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Conductive hearing impairment, Microtia, Small for gestational age, Emphys... OMIM:616835
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Macrotia, Cafe-au-lait spot, Seizure, Synophrys, Gait disturbance, Hand tremor, Recurrent otitis ... ORPHA:589905
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles... ORPHA:59303
Glycogen Storage Disease Ixb
Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:261750
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Immunodeficiency 23
Somatic sensory dysfunction, Conductive hearing impairment, Bronchiectasis, Eczema, Eosinophilia,... OMIM:615816
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Hyperbilir... OMIM:251880
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Generalized Eruptive Histiocytosis
Hypereosinophilia, Spotty hyperpigmentation, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Enlarged kidney, Synophrys, Long eyelashes, Atrial septal defect, Macrovesicu... OMIM:617303
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Leukopenia, Anemia, Premature graying of hair, Interstitial pneumonitis, Lymphopenia, N... OMIM:127550
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Patchy alopecia, V... OMIM:615387
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Galactosemia Iii
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly OMIM:230350
Episodic Ataxia Type 4
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls ORPHA:79136
Citrullinemia Type Ii
Hepatic fibrosis, Hyperactivity, Hepatocellular carcinoma, Acute hyperammonemia, Hepatic steatosi... ORPHA:247585
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, C... OMIM:617713
Staphylococcal Necrotizing Pneumonia
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... ORPHA:36238
Mucoepithelial Dysplasia, Hereditary
Alopecia, Chronic monilial nail infection, Keratoconjunctivitis, Fibrocystic lung disease, Hematu... OMIM:158310
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... OMIM:618986
Seizure, Generalized hypopigmentation, Fair hair, Eczema, Cataract, Increased level of hippuric a... OMIM:261600
Autosomal Recessive Cutis Laxa Type 1
Respiratory insufficiency, Vesicoureteral reflux, Pneumothorax, Recurrent urinary tract infection... ORPHA:90349
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Reduced natural killer cell count, Recurrent cutaneous funga... ORPHA:276
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Failure... OMIM:242860
Omenn Syndrome
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Erythroderma, Nephrotic syndrome, Thyroiditi... ORPHA:39041
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Synophrys, Long eyelashes, Hyperprolinemia, Hepatomegaly, Cardiomegaly OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Agitation, Neonatal hypoglycemia, Increased serum pyruvate, Macrocytic anemia, H... OMIM:619046
Sacroiliac arthritis, Septic arthritis, Chorioretinitis, Hip osteoarthritis, Pericarditis, Glomer... ORPHA:1304
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent aspiration pneumonia, Optic nerve hypoplasia, Decreased proportion of CD4-positive help... ORPHA:221139
Edinburgh Malformation Syndrome
Respiratory insufficiency, Brushfield spots, Seizure, Synophrys, Failure to thrive, Hirsutism, Hy... ORPHA:1895
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Hepatitis, Skin ... ORPHA:33110
Neonatal Marfan Syndrome
Megalocornea, Crumpled ear, Small for gestational age, Hypoxemia, Ectopia lentis, Emphysema, Neon... ORPHA:284979
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Sparse hair, Splenomegaly, Hepatic fibrosis, Ventr... OMIM:222470
Fanconi Anemia, Complementation Group F
Leukopenia, Anemia, Vesicoureteral reflux, Cafe-au-lait spot, Conductive hearing impairment, Poly... OMIM:603467
Congenital Factor Ii Deficiency
Anemia, Joint hemorrhage, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal ble... ORPHA:325
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Urinary incontinence, Spasticity, Fasciculations, Sensorineural h... ORPHA:464282
Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Inability to walk, Choreoathetosis, ... OMIM:208900
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures, Polyphagia, Cholestasis, R... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures, Polyphagia, Cholestasis, R... ORPHA:71526
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Partial absence of speci... OMIM:619652
Q Fever
Pericardial effusion, Hepatosplenomegaly, Pericarditis, Pleural effusion, Thrombocytopenia, Pneum... ORPHA:781
Wolcott-Rallison Syndrome
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Abnormality of the l... ORPHA:1667
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Renal tubular acidosis, Seizure, Central sleep apnea, Nonprogressive cerebe... ORPHA:431361
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hepatom... ORPHA:367
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Pneumothorax, Pulmonary bleb, Periodontitis, Nodular pattern on pulmonary HRCT, Repeated ... OMIM:130050
X-Linked Centronuclear Myopathy
Polyhydramnios, Recurrent respiratory infections, Inability to walk, Respiratory distress, Respir... ORPHA:596
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050