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Gene: Hps1 MGI:2177763

Gene Summary

Name:

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

Synonyms:

6030422N11Rik, Hermansky-Pudlak syndrome 1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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.

No results meet the p-value threshold

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Hps1 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.

Human diseases associated with Hps1 (1 diseases)
Human diseases predicted to be associated with Hps1 (757 diseases)

The table below shows human diseases associated to Hps1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 1		Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec...	OMIM:203300

The table below shows human diseases predicted to be associated to Hps1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th...	ORPHA:42665
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
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
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm...	OMIM:619947
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G...	OMIM:613496
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Abnormality of...	OMIM:155100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General...	OMIM:103500
Waardenburg Syndrome, Type 2B	Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis	OMIM:600193
Myh9-Related Disease	Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr...	ORPHA:182050
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract i...	OMIM:613101
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613265
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Thrombocytopenia, Gi...	ORPHA:238459
Albinism-Deafness Syndrome	Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi...	OMIM:300700
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal platelet granules, Albinism, Impa...	OMIM:614075
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy...	OMIM:613953
Albinism-Deafness Syndrome	Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg...	ORPHA:998
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Immunodeficiency 20	Recurrent respiratory infections, Reduced natural killer cell activity, Wheezing, Recurrent sinus...	OMIM:615707
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi...	OMIM:614074
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi...	OMIM:614076
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Hearing impairment	OMIM:172850
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Fair hair, Albinism, Periodontitis, Neutropenia, Prolonged bleedi...	OMIM:608233
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme...	OMIM:601706
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na...	OMIM:308240
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa...	OMIM:193510
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Hypop...	OMIM:614171
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature...	ORPHA:895
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-marrow foam cel...	OMIM:607616
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re...	OMIM:615559
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural...	ORPHA:2885
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Hermansky-Pudlak Syndrome 11	Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granul...	OMIM:619172
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli...	ORPHA:69736
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially dupli...	ORPHA:274
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec...	OMIM:203300
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o...	OMIM:614072
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su...	OMIM:601399
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Hypopigmentation of the s...	OMIM:610798
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegal...	ORPHA:3226
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Absent platelet dense granules, Epistaxis, Albinism, Ocular albinism, Restrict...	OMIM:614073
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Thrombocytopenia, Splenomegaly, Recu...	OMIM:617303
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf...	OMIM:301000
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency, Anemia	ORPHA:655
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splen...	OMIM:616050
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased plate...	OMIM:603585
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:277580
3-Methylglutaconic Aciduria Type 4	Hearing impairment, Cataract, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci...	OMIM:619802
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Hermansky-Pudlak Syndrome 8	Epistaxis, Albinism, Excessive bleeding after a venipuncture, Silver-gray hair, Myopic astigmatis...	OMIM:614077
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Griscelli Syndrome	Abnormality of neutrophils, Silver-gray hair, Splenomegaly, White hair, Hypopigmented skin patche...	ORPHA:381
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility, Decreased serum thrombox...	OMIM:614158
Phenylketonuria	Cataract, Eczema, Blue irides, Generalized hypopigmentation, Fair hair	OMIM:261600
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Prolonged bleeding time, Cryptorchidism, Abnormal helix morpho...	ORPHA:638
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ...	OMIM:214500
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Intellectual Developmental Disorder, Autosomal Recessive 50	Sensorineural hearing impairment, Heterochromia iridis	OMIM:616460
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu...	ORPHA:3437
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen...	OMIM:607594
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Ciliary Dyskinesia, Primary, 33	Atelectasis, Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Ciliary dyskines...	OMIM:616726
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Microcyti...	ORPHA:90308
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Blue Rubber Bleb Nevus	Prolonged bleeding time, Skin rash, Microcytic anemia, Intestinal bleeding, Arteriovenous malform...	ORPHA:1059
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto...	OMIM:153670
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Recurrent respiratory infections, Splenomegaly, Iris hypopigmen...	ORPHA:834
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Megalocornea	Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d...	OMIM:309300
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Foam cells	OMIM:269600
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Recurrent respiratory infections, Proteinuria, Heparan sulfa...	ORPHA:505248
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Thrombocytopenia, Neutropenia, Multiple cafe-au-lait spots, ...	OMIM:614082
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Throm...	OMIM:210250
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Usher Syndrome Type 3	Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi...	ORPHA:231183
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem...	OMIM:269840
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Acatalasemia	Severe periodontitis, Microcytic anemia, Arteriosclerosis, Gingival bleeding, Old-aged sensorineu...	ORPHA:926
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Corneal arcus, Normochromic anemia, Foam cells	OMIM:245900
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis	ORPHA:66633
Immunodeficiency 104	Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med...	OMIM:608971
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen...	ORPHA:540
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility...	OMIM:614009
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Hepatomegaly, Elevated circul...	OMIM:276700
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albin...	ORPHA:79430
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit...	OMIM:617638
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th...	ORPHA:324636
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells	OMIM:604809
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R...	OMIM:620321
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Abnorm...	ORPHA:53719
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Waardenburg Syndrome, Type 3	Partial albinism, Sensorineural hearing impairment, Blue irides, Hypopigmented skin patches, Prem...	OMIM:148820
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Hypermelanotic macule, Impaired T cell function, Abnormal lymphocyte physiology,...	ORPHA:1830
Deafness-Vitiligo-Achalasia Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:3239
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Epistaxis, Ocular albinism, Gingival bleeding, Generalized hypo...	ORPHA:352723
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal lung ...	ORPHA:464329
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Cataract, Iris hypopigmentation	ORPHA:231169
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair...	OMIM:300455
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Myositis, Pericarditis, S...	ORPHA:809
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas...	OMIM:612444
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Cryptorchidism	OMIM:275400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Cataract, Hepatomegaly, Elevated circ...	OMIM:608836
Methionine Malabsorption Syndrome	Tachypnea, White hair, Blue irides	OMIM:250900
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Transcobalamin Deficiency	Lymphopenia, Abnormality of chromosome stability, Pancytopenia, Decreased circulating antibody le...	ORPHA:859
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis...	OMIM:263200
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Abnormal bleeding, Dilatation of the cerebral artery, Atherosclerosis	ORPHA:91135
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Microcorn...	ORPHA:3214
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Pulmonary cyst, Enlarged kidney	OMIM:618272
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Recurrent respiratory infections, Blue irides, Protruding ear, Abnormal antihelix morphology, Caf...	ORPHA:3041
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope...	OMIM:226990
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanocytes, Astigmatism, Freckl...	ORPHA:54
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Partial absence of specific antibody response to Hae...	OMIM:301082
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec...	OMIM:620282
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, Hearing impairment, White hair, Ocular albinism, Hypochromi...	ORPHA:2720
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Proteinuria, Hypoplasi...	OMIM:609049
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration...	ORPHA:91547
Tonne-Kalscheuer Syndrome	Decreased testicular size, Cryptorchidism, Blue irides, Pulmonary hypoplasia	OMIM:300978
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Venous insufficiency, Splenomegaly, Abnormal pupil morphology, Limb...	ORPHA:2969
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat...	ORPHA:397596
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Hypermelanotic macule, Abnormal immunoglobulin level, Bi...	OMIM:242900
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Neutropenia, Nephrolithiasis, Lipemia re...	OMIM:232220
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Atherosclerosis	OMIM:610842
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus, Hearing impairment, Type IV atherosclerotic lesion	OMIM:144300
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se...	ORPHA:894
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Tularemia	Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Ple...	ORPHA:3392
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Glycogen Storage Disease Ia	Abnormal bleeding, Hepatomegaly, Proteinuria, Hyperlipidemia, Lipemia retinalis, Nephrolithiasis,...	OMIM:232200
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar...	ORPHA:1163
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Obesity And Hypopigmentation	Red hair	OMIM:620195
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract, Premature coronary artery atherosclerosis	OMIM:618463
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Primary Ciliary Dyskinesia	Asplenia, Chronic otitis media, Conductive hearing impairment, Neonatal respiratory distress, Res...	ORPHA:244
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Recurrent pharyngitis, Bronch...	ORPHA:168569
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, He...	OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r...	ORPHA:494424
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit...	ORPHA:51636
Riboflavin Transporter Deficiency	Progressive hearing impairment, Respiratory insufficiency, Iris hypopigmentation	ORPHA:97229
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Noonan Syndrome 4	Abnormal bleeding, Posteriorly rotated ears, Cryptorchidism, Blue irides, Low-set ears, Thickened...	OMIM:610733
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul...	ORPHA:229
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Spondylo-Ocular Syndrome	Cataract, Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Thickened ...	ORPHA:85194
Microlissencephaly	Pneumonia	ORPHA:1083
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Sensorineural hearing impairment, Aspiration pneumonia	OMIM:609528
Edinburgh Malformation Syndrome	Brushfield spots, Low-set ears, Respiratory insufficiency	ORPHA:1895
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Leukocytosis, Increased circulating IgE level, Hypersensitivity pneumoniti...	ORPHA:2902
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti...	OMIM:618986
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, E...	OMIM:243700
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Ataxia-Telangiectasia	Recurrent respiratory infections, Hypopigmentation of hair, Abnormality of chromosome stability, ...	ORPHA:100
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Conductive hearing i...	OMIM:244400
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Wolfram Syndrome 2	Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating ant...	OMIM:604928
Lcat Deficiency	Hemolytic anemia, Atherosclerosis, Corneal opacity, Premature coronary artery atherosclerosis	ORPHA:650
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Abnormal lung lobation, Pulmonary hypoplasia, Cystic renal dysplasia, Enl...	OMIM:615415
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Epistaxis, Chronic neutropeni...	ORPHA:79259
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Microcornea, Iri...	OMIM:617306
Sea-Blue Histiocytosis	Abnormal bleeding, Hyperpigmentation of the skin, Splenomegaly, Thrombocytopenia, Sea-blue histio...	ORPHA:158029
Alstrom Syndrome	Chronic active hepatitis, Asthma, Recurrent pneumonia, Hyperinsulinemia, Pigmentary retinopathy, ...	OMIM:203800
Hypoalphalipoproteinemia, Primary, 1	Premature coronary artery atherosclerosis	OMIM:604091
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-marrow foam cel...	OMIM:257200
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,...	OMIM:614878
Noonan Syndrome 13	Posteriorly rotated ears, Cryptorchidism, Blue irides, Multiple lentigines, Low-set ears, Recurre...	OMIM:619087
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper...	ORPHA:35909
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613266
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection...	ORPHA:731
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cryptorchidism, Sensorineural hearing impairment, Arterial stenosis, Cerebral artery atherosclero...	ORPHA:1192
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple c...	ORPHA:158000
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal bleeding, H...	ORPHA:247598
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Apnea, Albinism, Splenomegaly, Ocular albinism, Abnormal pulmon...	OMIM:617050
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Ectopia lentis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chr...	OMIM:604571
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Heparin Cofactor Ii Deficiency	Post-angioplasty coronary artery restenosis	OMIM:612356
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Cryptorchidism, Fair hair, Blue irides	OMIM:614613
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent pneumonia, Bronchiolitis obliterans organizing pneumonia,...	OMIM:615518
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Stapes ankylosis, Abnormality of the middle ear ossic...	ORPHA:90646
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Cerebral hemorrhage, Premature graying of hair, Azoospermia, Ischemic stroke, Low-set e...	ORPHA:280679
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Impaired T cell function,...	OMIM:613179
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,...	OMIM:613807
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory...	OMIM:615505
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Macs Syndrome	Prolonged bleeding time, Dilation of Virchow-Robin spaces, Cryptorchidism, Bronchiectasis, Recurr...	OMIM:613075
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ...	OMIM:619752
Fanconi Anemia, Complementation Group F	Hyperpigmentation of the skin, Pneumonia, Thrombocytopenia, Cryptorchidism, Patent ductus arterio...	OMIM:603467
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au...	OMIM:616100
Werner Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal cerebral vascular morphology, Pulmonary a...	ORPHA:902
Farber Disease	Respiratory distress, Corneal opacity, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelect...	ORPHA:333
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ventilatory defec...	OMIM:620296
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Pulmonary hypoplasia, Cystic renal dyspl...	OMIM:608022
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest...	ORPHA:747
Tangier Disease	Splenomegaly, Coronary artery atherosclerosis, Opacification of the corneal stroma, Atherosclerosis	OMIM:205400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney	ORPHA:90301
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Stage 5 chronic kidney disease, Ureter...	OMIM:208540
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormality of skin pigmentation, Premature graying of hair, Atherosclerosis	ORPHA:1979
Gm1-Gangliosidosis, Type Iii	Foam cells, Opacification of the corneal stroma	OMIM:230650
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Acute Radiation Syndrome	Abnormal bleeding, Inflammatory abnormality of the skin, Cataract, Thrombocytopenia, Interstitial...	ORPHA:454831
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Apnea, Brushfield spots, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the thym...	OMIM:214110
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Reduced circulating prolactin concentration, Band keratopathy, Elevated cir...	ORPHA:79443
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Pneumonia, Cryptorchidism, Spotty hypopigmentation, Decreased testicul...	ORPHA:1867
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Peripher...	ORPHA:91387
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar...	OMIM:612387
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Pneumonia	ORPHA:85179
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Splenomegaly, Respiratory ...	OMIM:607625
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism...	OMIM:210900
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Cataract, Atherosclerosis	ORPHA:2047
Hypercholesterolemia, Familial, 4	Atherosclerosis	OMIM:603813
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Cough, Nonproductive cough, Leukocytosis, Pneumoth...	ORPHA:36238
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Increased circulating IgA level, Pleural thickening, Increased circulating IgE l...	OMIM:619632
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Cryptorchidism, S...	ORPHA:912
Hypertriglyceridemia 1	Precocious atherosclerosis	OMIM:145750
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Bronchiectasis, Keratoconjun...	ORPHA:79128
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Macrotia, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Low-set...	OMIM:242860
Fish-Eye Disease	Splenomegaly, Corneal opacity, Atherosclerosis	ORPHA:79292
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Cataract, Posteriorly rotated ears, Brushfield spots, Cryptorchidi...	OMIM:214100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial...	ORPHA:276
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing...	OMIM:613808
Cholesterol-Ester Transfer Protein Deficiency	Precocious atherosclerosis	ORPHA:79506
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma	ORPHA:1791
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Cryptorchidism, Sensorineural hearing impair...	ORPHA:2719
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Enlarged kidney	OMIM:314390
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased adiponectin level, Precocious atherosclerosis, Decreased s...	ORPHA:280365
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Acne, Abnormality of thrombocytes, Abnormal cerebral vascular morpho...	ORPHA:758
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Cerebral hemorrhage, Elevated circulating luteinizing hormone level, Stroke-like episod...	OMIM:300845
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Decrea...	ORPHA:98754
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches	ORPHA:1784
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Decrea...	ORPHA:98793
Gapo Syndrome	Keratoconus, Abnormal cerebral vascular morphology, Hearing impairment, Hypopigmented skin patche...	ORPHA:2067
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin...	ORPHA:53271
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R...	OMIM:613550
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Decrea...	ORPHA:177904
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Internal hemorrhage, Splenic rupture, Developmental...	ORPHA:335
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Decrea...	ORPHA:177901
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pulmonary hypoplasia, Polysplenia, Extrapulmonary sequestrum, Cystic renal dysplasi...	OMIM:200995
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Intraventricular hemorrhage, Neonatal asphyxi...	ORPHA:420741
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom...	ORPHA:116
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Recurrent bronchitis, Cardiomegaly, Splenomega...	OMIM:252500
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Coronary artery atherosclerosis, Pancreatitis, Atherosclerosis	ORPHA:2348
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Lymphopenia, Decreased circulat...	OMIM:102700
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Prominent veins on trunk, Coronary artery atherosclerosis, Pancreatitis, Atheroscle...	ORPHA:79083
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus, Premature coronary artery atherosclerosis	OMIM:620058
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo...	ORPHA:244242
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Bl...	OMIM:193500
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Eczema, Sclerocornea, Hearing impairment, Cryptorchidism, Low-set ears...	ORPHA:284160
Immunodeficiency 40	Respiratory tract infection, Recurrent pneumonia, T lymphocytopenia, Interstitial pneumonitis, Re...	OMIM:616433
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta...	ORPHA:454836
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Atherosclerosis	ORPHA:2724
Cholesteryl Ester Storage Disease	Arteriosclerosis, Splenomegaly	ORPHA:75234
Prader-Willi Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Hypoventilation, Cryptorchidism, Hype...	OMIM:176270
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Stroke, Precocious atherosclerosis	ORPHA:230839
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Icf Syndrome	Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils...	ORPHA:2268
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop...	ORPHA:500095
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged prothro...	ORPHA:49566
Vici Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Cataract, Lymphopenia, Albinism, Decr...	OMIM:242840
Koolen-De Vries Syndrome	Cataract, Eczema, Anteverted ears, Cryptorchidism, Patent ductus arteriosus, Macrotia, Aortic roo...	OMIM:610443
Usher Syndrome Type 2	Sensorineural hearing impairment, Cataract, Iris hypopigmentation	ORPHA:231178
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating IgG level, Psori...	ORPHA:183675
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Coronary Artery Disease, Autosomal Dominant 2	Gout, Premature coronary artery atherosclerosis	OMIM:610947
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi...	ORPHA:486
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Emphysema, Lymph...	OMIM:620365
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Patent ductus a...	ORPHA:177907
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Noonan Syndrome	Abnormal bleeding, Hepatomegaly, Abnormality of the spleen, Cryptorchidism, Pulmonary artery sten...	ORPHA:648
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ...	OMIM:614935
Sitosterolemia 2	Premature coronary artery atherosclerosis	OMIM:618666
Nail-Patella Syndrome	Coronary artery dissection, Abnormal iris pigmentation, Antecubital pterygium, Primary congenital...	ORPHA:2614
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Hearing impairment	OMIM:619057
Dysbetalipoproteinemia	Accelerated atherosclerosis, Acute pancreatitis, Type IV atherosclerotic lesion, Peripheral arter...	ORPHA:412
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera...	ORPHA:69087
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, H...	ORPHA:99901
Familial Dysautonomia	Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Abnormal pupil mor...	ORPHA:1764
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Coronary artery atherosclerosis, Pancreatitis	ORPHA:79084
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode	ORPHA:199354
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Q Fever	Respiratory distress, Cholecystitis, Cough, Infectious encephalitis, Maculopapular exanthema, Vas...	ORPHA:781
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr...	ORPHA:99147
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria, Prolonged pr...	OMIM:613070
Coronary Artery Disease, Autosomal Dominant, 1	Premature coronary artery atherosclerosis	OMIM:608320
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Purpura, Pneumonia, Hypermelanotic macule, Autoimmune thrombocy...	OMIM:607944
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In...	ORPHA:2314
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Coronary artery atherosclerosis, Elevated hemoglobin A1c	OMIM:618620
Senior-Loken Syndrome 1	Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im...	OMIM:266900
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Gastrocutaneous Syndrome	Multiple cafe-au-lait spots, Multiple lentigines, Coronary artery atherosclerosis, Melanocytic nevus	ORPHA:2069
Angelman Syndrome	Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:72
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Hypopigmentation of the skin,...	ORPHA:125
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst...	ORPHA:79303
Brucellosis	Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Infectious encephal...	ORPHA:1304
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p...	OMIM:618372
Meacham Syndrome	Accessory spleen, Congenital alveolar dysplasia, Partial anomalous pulmonary venous return, Horse...	OMIM:608978
Morbid Obesity And Spermatogenic Failure	Azoospermia, Premature coronary artery atherosclerosis, Oligozoospermia	OMIM:615703
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Abnormal cerebral vascular morphology, Pulmonary ...	ORPHA:3205
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Blue irides, Mela...	OMIM:101800
Alkaptonuria	Coronary artery calcification, Osteoarthritis, Abnormality of skin pigmentation, Arthritis, Irreg...	ORPHA:56
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le...	ORPHA:64743
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, External ear malformation, Abnormal pupil...	ORPHA:233
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Ogden Syndrome	Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Cardiomegaly, Cryptorchidism, Pu...	OMIM:300855
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Apolipoprotein A-I Deficiency	Atherosclerosis, Opacification of the corneal stroma, Premature coronary artery atherosclerosis	ORPHA:425
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Abnormal pulmonary interstitial morphology,...	OMIM:620233
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Choroidal neovascularization, Retinal h...	OMIM:264800
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, White hair, Hearing impairment	ORPHA:896
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Cr...	ORPHA:636
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Aplastic anemia, Patent ductus arteriosus, Abnormal lung lob...	OMIM:300514
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hepatic foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepato...	OMIM:278000
Down Syndrome	Brushfield spots, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Patent du...	OMIM:190685
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Penoscrotal hypospadias, Unilateral cryptorchidism, Cr...	OMIM:618280
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Chronic otitis media, Thromboc...	ORPHA:169090
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Splenomegaly, Cryptorchidism, Sensorineural hearing impairment, Hepat...	OMIM:614866
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Proteinuria, Rod-cone dystrophy, Renal cyst, Nephrotic syndrome, Prolonged prothrom...	OMIM:212065
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Decreased serum leptin, Dyspnea, Pulmonary arterial hypertension, Sp...	OMIM:614008
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancrea...	ORPHA:70578
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Reticular hyperpigmentation, Premature graying of hai...	OMIM:127550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, Re...	OMIM:602450
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Fusariosis	Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, Keratitis, Hype...	ORPHA:228119
Niemann-Pick Disease, Type C1	CNS foam cells, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Foam cells	OMIM:257220
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Cataract, Recurrent pneumonia, Leukopenia, Prolonged prothrombin time, 3-Methy...	OMIM:616271
Tangier Disease	Accelerated atherosclerosis, Corneal opacity, Carotid artery stenosis, Hepatosplenomegaly, Anemia...	ORPHA:31150
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, H...	ORPHA:508
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne...	ORPHA:37042
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal lung lobation, Pulmonary h...	ORPHA:79328
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p...	ORPHA:83471
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow...	ORPHA:293978
Trisomy 8P	Posteriorly rotated ears, Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal ...	ORPHA:264450
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic...	OMIM:130650
Phace Syndrome	Cataract, Sclerocornea, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,...	ORPHA:42775
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Mucoepithelial Dysplasia, Hereditary	Fibrocystic lung disease, Cataract, Pneumonia, Eosinophilia, Hearing impairment, Recurrent pneumo...	OMIM:158310
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Conjunctivitis, Cough, Chondritis, Atelectasis, Hepatitis, Scle...	ORPHA:728
Osteogenesis Imperfecta, Type Xvi	Conductive hearing impairment, Prolonged bleeding time, Bruising susceptibility, Hearing impairment	OMIM:616229
Leukocyte Adhesion Deficiency	Abnormal bleeding, Acute myeloid leukemia, Recurrent urinary tract infections, Glomerulonephritis...	ORPHA:2968
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Paget Disease Of Bone 6	Osteoarthritis, Coronary artery atherosclerosis	OMIM:616833
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, White eyebrow, Cryptorchidism, Sensorineura...	OMIM:609136
Glutaric Acidemia Type 3	Glutaric aciduria, Ketonuria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno...	ORPHA:79124
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Vas...	ORPHA:1855
Melioidosis	Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Abnormality of the sple...	ORPHA:31202
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Pneumonia, Mixed hearing impairment, Hepatosplenomegaly	ORPHA:309288
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Pneumonia, Conductive hearing impairment, Respiratory insufficienc...	ORPHA:2135
Lipodystrophy, Familial Partial, Type 1	Prominent superficial veins, Coronary artery atherosclerosis, Acute pancreatitis	OMIM:608600
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema	OMIM:261740
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L...	OMIM:618278
Lmna-Related Cardiocutaneous Progeria Syndrome	Intracranial hemorrhage, Premature graying of hair, Aortic root aneurysm, Aortic atherosclerotic ...	ORPHA:363618
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Chemosis, Nephriti...	ORPHA:73263
Omenn Syndrome	Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy...	ORPHA:39041
Mgat2-Cdg	Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat...	ORPHA:79329
Squalene Synthase Deficiency	Macrotia, Posteriorly rotated ears, Abnormality of hair pigmentation, Low-set ears	OMIM:618156
Secondary Short Bowel Syndrome	Enterocolitis, Atherosclerosis	ORPHA:95427
Lujo Hemorrhagic Fever	Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Excessive bleeding after a ve...	ORPHA:319213
Abetalipoproteinemia	Abnormal bleeding, Abnormality of retinal pigmentation, Reticulocytosis, Decreased HDL cholestero...	ORPHA:14
Alg12-Cdg	Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Recurrent respira...	ORPHA:79324
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ...	OMIM:603554
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Bilateral trilobed lung, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, ...	OMIM:306955
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Arteriosclerosis, Severe Juvenile	Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta, Anemia	OMIM:208060
Yellow Fever	Abnormal bleeding, Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinas...	ORPHA:99829
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Abnormality of retinal pigmentation, Cataract, B...	ORPHA:191
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Noonan Syndrome 9	Cryptorchidism, Prolonged prothrombin time, Hydroureter, Prominent corneal nerve fibers	OMIM:616559
Hutchinson-Gilford Progeria Syndrome	Precocious atherosclerosis, Premature coronary artery atherosclerosis	OMIM:176670
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmentation of hair, Splenomegaly, Sensorineural hearing impairment, Hypopigmented skin patc...	ORPHA:163746
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Cryptorchidism, Enuresis no...	OMIM:615873
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro...	OMIM:619381
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Numerous pigmented freckles, Skin rash, Hearing impairment	ORPHA:220295
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Bronchial Neuroendocrine Tumor	Pneumonia, Elevated circulating growth hormone concentration, Nonproductive cough, Dyspnea, Asthm...	ORPHA:97287
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis, Hepa...	ORPHA:209902
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia	OMIM:618253
Revesz Syndrome	Abnormality of chromosome stability, Aplastic anemia, Leukocoria, Bone marrow hypocellularity, Fi...	OMIM:268130
Timothy Syndrome	Pneumonia, Bronchitis, Patent ductus arteriosus, Pulmonary arterial hypertension, Tetralogy of Fa...	OMIM:601005
Baraitser-Winter Cerebrofrontofacial Syndrome	Microcornea, Heterochromia iridis, Iris coloboma, Transient ischemic attack	ORPHA:2995
Nail-Patella Syndrome	Keratoconus, Cataract, Glomerulonephritis, Sensorineural hearing impairment, Antecubital pterygiu...	OMIM:161200
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Optic atrophy, Prolonged prothrombin time, 3-Methylglutaconic ac...	OMIM:618329
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc...	ORPHA:99826
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax...	ORPHA:538
Shigellosis	Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Uveitis, Ulcerative colitis, Ar...	ORPHA:810
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Enlarged kidney	ORPHA:276280
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Splenomegaly...	OMIM:306400
Lathosterolosis	Cataract, Foam cells with lamellar inclusion bodies, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Cryptorchidism, Blue irides, Microtia, Conductive hearing impai...	OMIM:129900
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Abnormal lung lobation, Abnormality of skin pigmentati...	ORPHA:744
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Vasculitis in the skin, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, He...	ORPHA:39812
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Leukopenia, Prolonged prothrombin time, 3-...	ORPHA:20
Nocardiosis	Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e...	ORPHA:31204
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Freckling, Hy...	OMIM:278720
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis...	OMIM:615846
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, An...	ORPHA:811
Ocular Albinism With Late-Onset Sensorineural Deafness	Sensorineural hearing impairment, Ocular albinism	ORPHA:1000
Mirage Syndrome	Thrombocytopenia, Cryptorchidism, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, ...	OMIM:617053
Aapoaiv Amyloidosis	Abnormal lung morphology, Paraproteinemia, Coronary artery atherosclerosis, Chronic pulmonary obs...	ORPHA:439232
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Aspiration pneumonia, Cough	ORPHA:216866
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Nephritis...	ORPHA:2552
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ...	ORPHA:567
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Precocious atherosclerosis, Hypersplenism, Vacuolated lymphocytes, Hepato...	ORPHA:275761
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Abnormality of chromosome stability, Recurrent respiratory in...	ORPHA:647
Knobloch Syndrome 1	Band keratopathy, Patent ductus arteriosus, Chorioretinal atrophy, Developmental cataract, Iris t...	OMIM:267750
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Corneal opacity, Hypermelanotic macule, Transien...	ORPHA:740
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
Williams Syndrome	Abnormal cerebral vascular morphology, Protruding ear, Chronic otitis media, Megalocornea, Low-se...	ORPHA:904
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein...	OMIM:614300
Autoimmune Hypoparathyroidism	Cataract, Dyspnea, Chronic mucocutaneous candidiasis, Conjunctivitis, Coronary artery atheroscler...	ORPHA:36913
Werner Syndrome	Cataract, Elevated hemoglobin A1c, Premature arteriosclerosis	OMIM:277700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Pneumonia, Increased circulating ACTH level, Abnormal circu...	ORPHA:90790
Neuroocular Syndrome	Cataract, Brushfield spots, Unilateral deafness, Lens coloboma, Blue irides, Cupped ear, Anterior...	OMIM:619539
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, An...	ORPHA:2330
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli...	ORPHA:228123
Aorta Coarctation	Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of...	ORPHA:1457
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti...	ORPHA:340
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Mem...	ORPHA:48435
Brittle Cornea Syndrome 1	Red hair, Hearing impairment	OMIM:229200
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Niemann-Pick Disease Type C	Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato...	ORPHA:646
Myotubular Myopathy With Abnormal Genital Development	Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism, Respiratory distress	OMIM:300219
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Punctate vasculitis skin le...	ORPHA:247691
Digeorge Syndrome	Impaired T cell function, Sclerocornea, Hypoplasia of the thymus, Acne, Decreased circulating par...	OMIM:188400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Cryptorchidism, Blue irides, Microtia, Generalized hypopigmentation, Fair hair, Blepharitis, Hear...	OMIM:604292
Lipodystrophy, Familial Partial, Type 2	Prominent superficial veins, Hyperinsulinemia, Acute pancreatitis, Atherosclerosis	OMIM:151660
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Prominent superficial veins, Abnormal cerebral vascular morp...	ORPHA:79474
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Hyperammonem...	OMIM:617049
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Dyspnea, Peripheral arte...	ORPHA:391665
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Respiratory failure requiring assisted ventilation, Decreased serum insulin-li...	ORPHA:77293
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Prolonged prothrombin time, Recur...	OMIM:212750
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Increased circulating IgA level, Abnormal circulating leptin concentration,...	ORPHA:2298
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Osteoarthritis, Abnormal cornea morphology, Aortic root aneurysm, Dilata...	ORPHA:287
Listeriosis	Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, ...	ORPHA:533
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Sensorineural hearing impairment, Low-set ears, Aspiration pneumonia...	OMIM:616430
Cerebrotendinous Xanthomatosis	Abnormal auditory evoked potentials, Precocious atherosclerosis, Abnormal lung morphology, Juveni...	ORPHA:909
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia	ORPHA:99772
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Cryptorchidism, Splenomegaly, Abnormal lung lobation, Renal cyst, Dupl...	OMIM:312870
Gm1 Gangliosidosis	Recurrent respiratory infections, Corneal opacity, Splenomegaly, Patent ductus arteriosus, Hepato...	ORPHA:354
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time, Hyperammonemia, Hepatomegaly	OMIM:618641
Estrogen Resistance Syndrome	Acne, Increased circulating gonadotropin level, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:785
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem...	OMIM:311250
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Mixed hearing impairment, Thoracic aortic aneurysm, Repeated pneumothoraces...	ORPHA:536467
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Sarcoidosis	Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Leuk...	ORPHA:797
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Familial Chylomicronemia Syndrome	Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Hepatosplen...	ORPHA:444490
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Prolonged prothrombin time, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Chops Syndrome	Cataract, Thickened helices, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Anomalous pu...	OMIM:616368
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microtia, Ocular albinism, Cupped ear	ORPHA:1352
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Prolonged prothr...	OMIM:619055
Gaisböck Syndrome	Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Peripheral arterial s...	ORPHA:90041
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Hepatomegaly, Optic disc pallor, Recurrent respiratory infections, Splen...	ORPHA:404454
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Hematochezia, Prolonged prothrombin time, Decreased serum bile acid concentration, ...	OMIM:214950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia	OMIM:253700
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend...	OMIM:617168
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Thrombocytopenia	OMIM:617941
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Sensorineural hearing impairment, Coronary artery atherosclerosis, Renal artery stenosis, Cerebra...	OMIM:209010
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Periodontitis, C...	ORPHA:534
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Low-set ...	ORPHA:314655
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase ...	OMIM:614921
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Thoracic aortic aneurysm, Hearing imp...	ORPHA:365
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Sensorineura...	ORPHA:565612
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Vascular dilatation, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus...	OMIM:613177
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Hematochezia, Prolonged prothrombin time, Hyperbilirubinemia	OMIM:613812
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropenia, Chemosis...	ORPHA:95455
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time, Hyperammonemia	OMIM:616483
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Splenomegaly, Prolonged prothrombin ...	ORPHA:309854
Cockayne Syndrome Type 3	Cataract, Splenomegaly, Macrotia, Subdural hemorrhage, Retinal hemorrhage, Premature graying of h...	ORPHA:90324
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
3P25.3 Microdeletion Syndrome	Patent ductus arteriosus, Coronary artery atherosclerosis, Sensorineural hearing impairment	ORPHA:435638
Williams-Beuren Syndrome	Retinal arteriolar tortuosity, Sensorineural hearing impairment, Blue irides, Premature graying o...	OMIM:194050
Sialuria	Prolonged prothrombin time, Upper airway obstruction, Low-set ears, Hepatosplenomegaly	ORPHA:3166
Primary Sclerosing Cholangitis	Hepatomegaly, Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Uveitis, Hepatos...	ORPHA:171
Degcags Syndrome	Abnormality of skin pigmentation, Premature graying of hair, Leukopenia, Iron deficiency anemia, ...	OMIM:619488
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Monosomy 13Q34	Hypercalcemia, Epistaxis, Fetal pyelectasis, Hematochezia, Prolonged prothrombin time	ORPHA:96168
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Splenomegaly, Prolonged prothromb...	ORPHA:30391
Hypercholesterolemia, Familial, 1	Corneal arcus, Coronary artery atherosclerosis	OMIM:143890
Short-Rib Thoracic Dysplasia 12	Posteriorly rotated ears, Abnormal pinna morphology, Splenomegaly, Atelectasis, Patent ductus art...	OMIM:269860
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Corneal perforation, Conjunctival hyp...	ORPHA:68
Atrial Septal Defect, Coronary Sinus Type	Transient ischemic attack, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous...	ORPHA:99104
Hypercholesterolemia, Familial, 2	Corneal arcus, Coronary artery atherosclerosis	OMIM:144010
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Acute colitis, Pneumonia, Respiratory tract infection, Dyspnea, Leukocytosis, M...	ORPHA:544482
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio...	ORPHA:84064
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Cataract, Keratitis, Cough, Dy...	ORPHA:1018
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Mixed hearing impairment, Cataract, Corneal opacity, Thickene...	ORPHA:581
Cornelia De Lange Syndrome 1	Pneumonia, Abnormal incisura morphology, Cryptorchidism, Sensorineural hearing impairment, Microc...	OMIM:122470
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Low-set ears, Aspiration pneumonia, Cherry red spot of the macula, Macrotia, ...	ORPHA:79255
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio...	ORPHA:258
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold...	ORPHA:1974
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Brittle Cornea Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of hair pigmentation	ORPHA:90354
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea	ORPHA:26793
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia,...	OMIM:619525
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Pneumonia, Mixed hearing impairment, Sensorineural heari...	ORPHA:309282
Marshall-Smith Syndrome	Apnea, Hearing impairment, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Re...	OMIM:602535
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Premature coronary artery atherosclerosis	ORPHA:140905
Plague	Abnormal bleeding, Respiratory distress, Chapped lip, Skin rash, Hearing impairment, Hematemesis,...	ORPHA:707
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Hyperammonemia, Intracranial hemorrhage, Prolonge...	ORPHA:90062
Mucopolysaccharidosis, Type Vi	Corneal opacity, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restricti...	OMIM:253200
Hyperlipoproteinemia, Type Id	Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary artery atheroscle...	OMIM:615947
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Thrombocytopenia, Hearing impairment	OMIM:301072
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Transient ischemic attack, Pneumonia, Breathing dysregulation, Increased pulmonary vas...	ORPHA:99103
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Dyspnea, Dilatation of the ventricular cavity, Coronary arte...	ORPHA:66529
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin...	ORPHA:79404
1P36 Deletion Syndrome	Aortic arch aneurysm, Low-set, posteriorly rotated ears, Cataract, Abnormality of the spleen, Cry...	ORPHA:1606
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Conductive hearing impairm...	ORPHA:444077
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Cholera	Tachypnea, Stroke, Aspiration pneumonia, Hyperventilation	ORPHA:173
Neuroleptic Malignant Syndrome	Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia	ORPHA:94093
Liver Disease, Severe Congenital	Chronic gastritis, Pneumonia, Eczema, Cough, Splenomegaly, Patent ductus arteriosus, Dilatation o...	OMIM:619991
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Optic disc coloboma, Renal hy...	OMIM:309800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Cataract, Pneumonia, Cryptorchidism, Patent ductus arteriosus, ...	ORPHA:353281
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Astigmatism, Aspiration pneumonia	OMIM:619482
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Cataract, Pneumonia, Cryptorchidism, Patent ductus arteriosus, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Cataract, Pneumonia, Cryptorchidism, Patent ductus arteriosus, ...	ORPHA:353277
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Prominent scalp veins, Cataract, Posteriorly rotated ears, Pneu...	OMIM:264090
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Doors Syndrome	Respiratory distress, Cataract, Atresia of the external auditory canal, Aspiration pneumonia, Low...	ORPHA:79500
Chand Syndrome	Atelectasis	ORPHA:1401
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Anomalous origin of left subclav...	ORPHA:438213
Yunis-Varon Syndrome	Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Cupped ear, Protruding ...	OMIM:216340
Pmm2-Cdg	Respiratory distress, Pericarditis, Cataract, Abnormal pinna morphology, Elevated circulating gro...	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hps1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hps1.

No publications found that use IMPC mice or data for Hps1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hps1^em1(IMPC)Bay	Exon Deletion	Mice
Hps1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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