Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
increased circulating total protein level Bloc1s6em1(IMPC)Mbp HOM   Early adult 9.71×10-05
abnormal skin morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
increased circulating calcium level Bloc1s6em1(IMPC)Mbp HOM   Early adult 5.58×10-05
increased circulating serum albumin level Bloc1s6em1(IMPC)Mbp HOM Early adult 5.51×10-06
abnormal spleen morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/hair pigmentation Bloc1s6em1(IMPC)Mbp HOM Early adult 6.04×10-15

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Bloc1s6 mutations

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

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Neurofibromatosis Type 6
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Hermansky-Pudlak Syndrome 6
Absent foveal reflex, Impaired ADP-induced platelet aggregation, Recurrent upper respiratory trac... OMIM:614075
Hermansky-Pudlak Syndrome 2
Recurrent otitis media, Thrombocytopenia, Reduced natural killer cell count, Recurrent pneumonia,... OMIM:608233
Hermansky-Pudlak Syndrome 4
Bruising susceptibility, Restrictive ventilatory defect, Hypoplasia of the fovea, Menorrhagia, Al... OMIM:614073
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Hypocomplementemic Urticarial Vasculitis
Uveitis, Proteinuria, Episcleritis, Ascites, Conjunctivitis, Skin rash, Emphysema, Cough, Cerebra... ORPHA:36412
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Restrictive ventilatory defect, Hypopigmentation of hair, ... OMIM:203300
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impaired epinephrine-induced ... OMIM:619267
Hermansky-Pudlak Syndrome 11
Fair hair, Bruising susceptibility, Hypoplasia of the fovea, Menorrhagia, Gingival bleeding, Albi... OMIM:619172
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Chediak-Higashi Syndrome
Anemia, Iris hypopigmentation, Thrombocytopenia, Abnormal dense granules, Tremor, Bruising suscep... OMIM:214500
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, A... OMIM:617294
Netherton Syndrome
Emphysema, Ectopic kidney, Asthma, Hydronephrosis, Abnormal hair morphology, Sparse eyebrow, Decr... ORPHA:634
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Low-frequency sensorineural hea... OMIM:613101
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Hypopigmentation of hair, Impaired platelet aggregation, Gingival bleedi... OMIM:614072
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Hypoplasia of the fovea, Menorrhagia, Albinism, Thrombocytopenia, Ocular... OMIM:614074
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Hermansky-Pudlak Syndrome 7
Bruising susceptibility, Impaired platelet aggregation, Albinism, Ocular albinism, Abnormal bleed... OMIM:614076
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurrent urinary tr... OMIM:615559
Alpha-Heavy Chain Disease
Ascites, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Alopecia ORPHA:100025
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:173470
Hermansky-Pudlak Syndrome
Bruising susceptibility, Hypopigmentation of hair, Gastrointestinal hemorrhage, Abnormality of th... ORPHA:79430
Hermansky-Pudlak Syndrome 10
Low-set ears, Albinism, Splenomegaly, Focal myoclonic seizure, Neutropenia, Recurrent respiratory... OMIM:617050
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Hypopigmentation of hair, Developme... OMIM:242840
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... OMIM:173590
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Abnormality of the liver, Alopecia totalis, Ascites OMIM:240150
Granulomatous Slack Skin
Abnormality of the lymph nodes, Hypercalcemia ORPHA:33111
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Impaired platelet aggregation, Hypoplasia of the fovea, Menorrhagia, Gin... OMIM:614077
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... OMIM:300400
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Mogs-Cdg
Decreased circulating IgG level, Hypoventilation, Thrombocytopenia, Pulmonary edema, Alopecia, Hi... ORPHA:79330
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Lymphadenopat... ORPHA:29073
Fechtner syndrome
Bruising susceptibility, Developmental cataract, Neutrophil inclusion bodies, Leukocyte inclusion... OMIM:153640
3-Methylglutaconic Aciduria Type 4
Cataract, 3-Methylglutaconic aciduria, Thrombocytopenia, Failure to thrive, Spasticity, Iris hypo... ORPHA:67048
Slc35A1-Cdg
Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Giant platelets, Pulmonary hemorrhage, Thrombocyto... ORPHA:238459
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... ORPHA:158048
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymp... OMIM:603554
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormality of the optic nerv... ORPHA:3226
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Abnormal renal tubule morphology, Cataract, Ataxia, Abnormality of neutrophil... ORPHA:2720
Free Sialic Acid Storage Disease
Abnormal pyramidal sign, Abnormality of skin pigmentation, Nephrotic syndrome, Failure to thrive ... ORPHA:834
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Attenuated Chédiak-Higashi Syndrome
Incoordination, Bruising susceptibility, Gingival bleeding, Recurrent respiratory infections, Ocu... ORPHA:352723
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Gastrointestinal hemorrhage, Ecchymosis, Purpura,... ORPHA:849
Myh9-Related Disease
Bruising susceptibility, Neutrophil inclusion bodies, Proteinuria, Menorrhagia, Giant platelets, ... ORPHA:182050
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Immunodeficiency 20
Recurrent otitis media, Reduced natural killer cell activity, Recurrent viral upper respiratory t... OMIM:615707
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Giant platelets, Gingiv... OMIM:231200
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Impaired ADP-induced platelet aggregat... OMIM:609821
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Weight loss, Leukocytosis, Myocarditis, Pleural effus... ORPHA:188
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia, Abnormal abdomen morphology OMIM:211000
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Proteinuria, Acute kidney injury, Pleural ef... ORPHA:244242
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal bleeding, Abnormal hemoglobin, Thrombo... ORPHA:231393
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Anemia, Respiratory insufficiency, Seizure ORPHA:436
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Subcutaneous hemorrhage, Proteinuria, Pulmonary hemorrhage, Ataxia, Thromb... OMIM:603585
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Lymphangiectasia, Intestinal
Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal pyramidal sign, Hypopigmentation of hair, Ureteral stenosis, Spastic tetraplegia, Sensor... ORPHA:2719
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Aplasia of the thymus, Failur... OMIM:242700
Chédiak-Higashi Syndrome
Pancytopenia, Spastic paraplegia, Abnormal leukocyte morphology, Anemia, Abnormality of neutrophi... ORPHA:167
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Progressive se... OMIM:600208
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Hematuria, Hydrops fetalis, Pulmonary embolism, E... ORPHA:90308
Griscelli Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Leukopenia, Bone marrow hypocellularity, ... ORPHA:381
Ethanolaminosis
Cardiomegaly OMIM:227150
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Sensorineural ... OMIM:155100
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, Hepatic bridging fibrosi... OMIM:619658
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Decreased eosinophil count,... OMIM:619632
Mgat2-Cdg
Decreased circulating IgG level, Prominent antihelix, Impaired platelet aggregation, Long eyelash... ORPHA:79329
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant pla... OMIM:187800
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, Hyperme... OMIM:145250
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... OMIM:308240
Immunodeficiency 48
Pneumonia, Splenomegaly, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia OMIM:269840
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Chronic otitis m... OMIM:604571
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Menorrh... OMIM:277480
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Birt-Hogg-Dubé Syndrome
Emphysema, Abnormality of retinal pigmentation, Pneumothorax, Pulmonary sequestration, Renal cell... ORPHA:122
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Tietz Albinism-Deafness Syndrome
White eyebrow, Blue irides, Generalized hypopigmentation, White eyelashes OMIM:103500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Skin rash, Leukopenia, M... ORPHA:809
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Failure to thrive in infancy, Autoimmune th... ORPHA:1572
Wild Type Attr Amyloidosis
Nephrotic syndrome, Proteinuria, Pleural effusion, Pedal edema, Nephropathy, Renal insufficiency,... ORPHA:330001
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the fundus, Hypopigmentation of the skin, Ocular albinism, Thromb... OMIM:614171
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Proteinuria, Anemia, Hematemesis,... ORPHA:340
Rhabdoid Tumor
Hypercalcemia, Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Fanconi Renotubular Syndrome 5
Emphysema, Glycosuria, Proteinuria, Lung adenocarcinoma, Tubulointerstitial fibrosis, Aminoacidur... OMIM:618913
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts, Impaired platelet aggregation OMIM:618462
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Riboflavin Transporter Deficiency
Progressive hearing impairment, Sleep apnea, Ataxia, Optic disc pallor, Abnormality of macular pi... ORPHA:97229
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Edema, Pulm... OMIM:267450
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Otitis media, Decreased specific anti-polysaccharide antibody level, Lymp... OMIM:600903
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Japanese Encephalitis
Opisthotonus, Abnormal pattern of respiration, Cogwheel rigidity, Respiratory paralysis, Abnormal... ORPHA:79139
Bardet-Biedl Syndrome 16
Renal agenesis, Recurrent otitis media, Renal cyst, Bronchiolitis, Retinal degeneration, Obesity,... OMIM:615993
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis, Nephrotic syndrome ORPHA:60
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Lymphadenopathy, Dilated cardiomyopathy, Hepa... OMIM:615895
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Hypop... OMIM:611584
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense gr... OMIM:601399
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Ecchymosis... OMIM:614009
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splenomegaly, An... OMIM:616050
Adamantinoma
Hypercalcemia ORPHA:55881
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Pneumonia, Recurrent skin infectio... OMIM:613953
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Lymphatic Malformation 7
Facial edema, Nonimmune hydrops fetalis, Anemia, Lymphedema, Respiratory distress, Edema, Pericar... OMIM:617300
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Respiratory tract infection, Atelectasis, N... ORPHA:70587
Bernard-Soulier Syndrome
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Macrothrombocytopenia, Asthma, M... ORPHA:274
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Atonic seizure, High-frequency sensorineural hearing impairment... ORPHA:2590
Cocaine Intoxication
Proteinuria, Tachypnea, Wheezing, Pulmonary edema, Tremor, Acute kidney injury, Involuntary movem... ORPHA:90068
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Abnormality of the optic nerve, Hypopigmenta... ORPHA:33445
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Menorrhagia, Eczema, Psoriasiform dermatitis, Alopecia, Thrombocyt... OMIM:617443
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Hematemesis, Otitis media, Abnormal platelet morphology, ... ORPHA:906
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Gray Platelet Syndrome
Bruising susceptibility, Abnormal number of alpha granules, Menorrhagia, Impaired collagen-induce... OMIM:139090
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypoc... ORPHA:90362
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Uveitis, Hypoxemia, Abnormality of T cell physiology, Iridocyclitis, Abnormal pulmo... OMIM:181000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:608404
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Ascites, Emphysema, Cough, Ungual fibroma, Seizure, Retinal hamartom... ORPHA:538
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Low-set ears, Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Sebastian syndrome
Leukocyte inclusion bodies, Giant platelets, Thrombocytopenia, Neutrophil inclusion bodies, Prolo... OMIM:605249
Ethylene Glycol Poisoning
Cerebral edema, Renal tubular dysfunction, Hematuria, Decreased urine output, Tachypnea, Ataxia, ... ORPHA:31826
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Petechiae, Impaired neutrophil chemotaxis, Reduced... OMIM:619374
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Impaired proprioception, Spastic dysarthria, Spastic paraplegia, Impair... ORPHA:251282
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infe... ORPHA:2968
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dysmetria, Interstitial emphysema, Intention tremor, Dilatation of the renal pelvis, Ataxia, Bron... OMIM:619708
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hemorrhage, Impaired ... OMIM:193400
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Ataxia, Iris hypopigmentation, S... ORPHA:411515
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Decreased urine output, Acute kidney injury, Increased inflammatory response, Respirat... ORPHA:542323
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Griscelli Syndrome Type 2
Pancytopenia, Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Hemophagocytos... ORPHA:79477
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Respiratory failure requiring assisted ventilation, Limb fasciculati... ORPHA:90117
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Abnormal hair quantity ORPHA:1116
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Reticulocyt... OMIM:314050
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Pancreatitis, Abnormal blood gas level, Pulmo... ORPHA:70578
Griscelli Syndrome Type 1
Premature graying of hair, Retinopathy, Ataxia, Partial albinism, White hair, Iris hypopigmentati... ORPHA:79476
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Cholecystitis, Hypercholesterolemia, Inc... ORPHA:90041
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Seizure OMIM:210050
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Pneumonia, Decrease... OMIM:607594
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Dilated cardiomyopathy, Splenomegaly, Hepatomegaly,... OMIM:602390
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia, Sensorineural hearing impairment, Optic disc hypoplasia OMIM:609528
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Ascites, Hypocalcemia, Pancreatic lymphangiectasis, Splenomegaly, Hepatomegaly, ... OMIM:235255
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Anemia OMIM:608898
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Low anterior hairline, Low posterior hai... OMIM:618440
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Failure to thrive, Panhypogammag... OMIM:601457
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Sensorineural hearing impairment, Astigmati... ORPHA:999
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Petechiae, Reduced natural killer cell activity, Ecchymosis, Hemophagocy... ORPHA:540
Microlissencephaly
Bilateral tonic-clonic seizure with generalized onset, Pneumonia, Hypertonia ORPHA:1083
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Usher Syndrome Type 1
Sensorineural hearing impairment, Cataract, Ataxia, Vestibular hypofunction, Iris hypopigmentatio... ORPHA:231169
Infantile Sialic Acid Storage Disease
Fair hair, Vacuolated lymphocytes, Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Conj... OMIM:269920
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus,... ORPHA:55
Usher Syndrome Type 3
Sensorineural hearing impairment, Cataract, Astigmatism, Ataxia, Vestibular hypofunction, Iris hy... ORPHA:231183
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Aspergillosis
Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitivity pneumonitis, Infectious encephali... ORPHA:1163
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair OMIM:269600
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Purine Nucleoside Phosphorylase Deficiency
Tetraparesis, Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Autoimmune thro... OMIM:613179
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Fabry Disease
Proteinuria, Anemia, Emphysema, Cataract, Seizure, Optic atrophy, Arthritis, Hearing impairment, ... ORPHA:324
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Diffuse alveo... ORPHA:199241
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnor... ORPHA:158061
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Impaired platelet aggregation, Menorrhagia, Intestinal bleeding, Joint h... OMIM:605735
Sarcoidosis
Uveitis, Increased T cell count, Maculopapular exanthema, Anemia, Thrombocytopenia, Emphysema, Ne... ORPHA:797
Quebec Platelet Disorder
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint he... OMIM:601709
Thymic Neuroendocrine Tumor
Hypercalcemia, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Neoplasm of th... ORPHA:97289
Macs Syndrome
Bruising susceptibility, Decreased body weight, Sparse eyebrow, Palpebral edema, Bronchiectasis, ... OMIM:613075
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cholestasis, Jaundice, Hypoalbuminemia, Ascites, Cirrhosis OMIM:617156
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Hemifacial spasm, Acute kidney injury, Purpura, Tachypnea, Myocar... ORPHA:466677
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cardiomegaly, Ascites, Splenomegaly, Hepatomegaly, ... OMIM:235200
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Apraxia, Involuntary moveme... ORPHA:240103
Isolated Agammaglobulinemia
Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of the eye, Thromb... ORPHA:229717
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Gia... ORPHA:54
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Ascites, Hypocalcemia, Pancreatic lymphangiectasis, Splenome... ORPHA:1655
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Autoerythrocyte Sensitization Syndrome
Epistaxis, Bruising susceptibility, Superficial dermal perivascular inflammatory infiltrate, Gast... ORPHA:324636
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Obesity, Recurrent sinusitis, Recurrent respiratory i... OMIM:300310
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Hearing impairment, Respiratory failure, Rigidity, Neonatal respirator... OMIM:619057
Tularemia
Pneumonia, Erythema nodosum, Leukocytosis, Inflammatory abnormality of the eye, Cutaneous abscess... ORPHA:3392
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Panc... OMIM:618805
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Idiopathic Achalasia
Cough, Recurrent aspiration pneumonia, Weight loss, Wheezing, Bronchitis ORPHA:930
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Mastocytosis
Chronic leukemia, Mastocytosis, Abnormality of skin pigmentation, Hypercalcemia, Splenomegaly, He... ORPHA:98292
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Widow's peak, Recurrent otitis media, Bronchiolitis, Pneumonia,... OMIM:266265
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Vitiligo, Autoimm... OMIM:614700
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Weight loss ORPHA:141152
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Pericarditis, Hyperproteinemia, Thrombocytopenia ORPHA:509
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Hepatomegaly, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Hyperpigmentation of the skin, Abnormality of iron homeostasis ORPHA:75563
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Small for gestational age, Impaired platelet aggregation, Hypercalciuria, Hypos... OMIM:241200
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Nocardiosis
Scleritis, Productive cough, Keratitis, Conjunctivitis, Emphysema, Chorioretinitis, Infectious en... ORPHA:31204
Infantile Myofibromatosis
Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia, Neoplasm of the pancreas ORPHA:2591
Neurofibromatosis-Noonan Syndrome
Low-set, posteriorly rotated ears, Multiple cafe-au-lait spots, Prolonged bleeding time, Abnormal... ORPHA:638
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Hepatomegaly, Anemia, Abnormal heart morphology, Hypoalbuminemia, Ascites, Thrombocy... OMIM:608104
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatomegaly, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis OMIM:602579
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Ataxia, Decreas... ORPHA:100
Ellis Van Creveld Syndrome
Emphysema, Abnormality of the nail, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, R... ORPHA:289
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Hypopigmentati... ORPHA:79431
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD69 ... OMIM:300853
Rigid Spine Syndrome
Respiratory insufficiency, Waddling gait, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Ascites, Pericardial effusion, Dyspnea OMIM:115197
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Decreased proportion of CD4-positive helpe... ORPHA:543
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased circulating cerul... OMIM:616828
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Ovarian Hyperstimulation Syndrome
Peripheral edema, Increased serum testosterone level, Pleural effusion, Ascites, Increased circul... ORPHA:64739
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Patent foramen ovale, Atrial septal defect, Hypocalcemia... ORPHA:26793
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jau... OMIM:616860
Meier-Gorlin Syndrome 4
Emphysema, Low-set ears, Microtia, Failure to thrive, Breast hypoplasia OMIM:613804
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hypoproteinemia, Abnormality of the pancreas, Abnormal hair pa... ORPHA:2315
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity, Recurrent respiratory infections, Respir... ORPHA:2432
Essential Thrombocythemia
Splenomegaly, Paresthesia, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphol... ORPHA:3318
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Seizure, Pneumonia ORPHA:85179
Hemophilia B
Hematuria, Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recur... ORPHA:98879
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Loeys-Dietz Syndrome 4
Emphysema, Bruising susceptibility, Flat cornea, Eosinophilic infiltration of the esophagus, Pneu... OMIM:614816
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis, Hyperam... OMIM:271500
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Aortic valve stenosis, Pulmonic stenosis OMIM:143880
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Ecchymosis, Absence of alpha gra... OMIM:187900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly, Hepatomegaly OMIM:618541
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Cupped ear, Microtia, Ocular albinism, Myoclonus ORPHA:1352
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Abnormality of the nail, Hypopigmented skin patches, Splenomegaly... ORPHA:2584
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hepatosplenomegaly, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Ascites OMIM:226300
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Dyspnea, Orthopnea, Recurrent respiratory infections, Pulmonary venous hyperten... ORPHA:75249
Pseudohypoparathyroidism Type 1A
Band keratopathy, Myoclonic spasms, Hypocalcemic seizures, Choreoathetosis, Abnormal platelet fun... ORPHA:79443
Oculocerebrodental Syndrome
Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia ORPHA:557003
Urocanase Deficiency
Fair hair, Blue irides, Ataxia, Urocanic aciduria, Tremor OMIM:276880
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Oculomotor apraxia, Thrombocytopenia, Splenomegaly, Anemia, Failu... OMIM:230900
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Hyperinsulinemia, Micropenis, Impaired pa... OMIM:176270
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Asthma, Recurrent sinusitis, Recurrent respiratory infections, Atop... ORPHA:217390
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Ca... ORPHA:858
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Ataxia, Vertigo ORPHA:71518
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Early balding, Hand tremor, Dysmetria, Micropenis, Spastic paraparesis, Frontal balding, Blue iri... ORPHA:3041
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Depletion of mitochond... OMIM:251880
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Ataxia, Recurrent hand flapping,... ORPHA:411511
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Hyperaldosteronism, Nephrocalcinosis, Myoclonic spasms, Hypermagnesiur... ORPHA:73224
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Astigmatism, Blue irides, Ocular alb... OMIM:203100
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated carcinoembryonic antigen level ORPHA:100083
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Ventricular septal defect, Cardiomegaly OMIM:601005
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus OMIM:300500
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Bladder diverticulum, Recurrent respiratory infections, Overgrowth, Oligohydramnios OMIM:219100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopath... ORPHA:85414
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Eosinophilia, Pneumonia, Decreased proporti... ORPHA:169160
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Blue Rubber Bleb Nevus
Intestinal bleeding, Microcytic anemia, Prolonged bleeding time, Skin rash ORPHA:1059
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Obesity, Iris hypopigmentation ORPHA:177910
1P36 Deletion Syndrome
Motor stereotypy, Hydronephrosis, Conductive hearing impairment, Cataract, Obesity, Microtia, Ocu... ORPHA:1606
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Optic nerve misrouting, Blue irides, White eyelashes, Iri... ORPHA:352731
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Cardiomegaly, L... OMIM:617713
Dengue Fever
Hypoproteinemia, Leukopenia, Hepatomegaly, Ascites, Thrombocytopenia ORPHA:99828
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic oral ... ORPHA:723
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Angelman Syndrome
Astigmatism, Recurrent hand flapping, Iris hypopigmentation, Keratoconus, Infantile spasms, Tremo... ORPHA:72
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Muscular Hypertonia, Lethal
Pneumonia, Hypertonia OMIM:254120
Simpson-Golabi-Behmel Syndrome, Type 2
Small nail, Recurrent upper respiratory tract infections, Pneumonia, Low-set ears, Micropenis, Ob... OMIM:300209
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Coarse hair, Long eyelashes, Atrial sep... OMIM:617303
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Riddle Syndrome
Decreased circulating IgG level, Otitis media, Intraventricular hemorrhage, Bronchitis, Abnormal ... ORPHA:420741
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Ataxia, Recurrent hand flapping,... ORPHA:98794
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Wyburn-Mason Syndrome
Tinnitus, Hearing impairment, Gingival bleeding, Retinal vascular malformation, Seizure, Cerebral... ORPHA:53719
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Noonan Syndrome
Abnormal platelet function, Coarse hair, Sensorineural hearing impairment, Aplasia of the semicir... ORPHA:648
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Ocular albinism, Hypoplasia of the fovea ORPHA:370091
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Anasarca, Pancytopenia, Small for gestational age, Slender build, Respiratory failure,... OMIM:613658
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Small for gestational age, Decreased circulating gonadotropin concentra... ORPHA:98754
Meier-Gorlin Syndrome 6
Emphysema, Small for gestational age, Conductive hearing impairment, Microtia, Stenosis of the ex... OMIM:616835
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... OMIM:618534
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Long eyelashes, Hyperprolinemia, Hepatomegaly, Synophrys, Cardiomegaly, Hyperalaninemia OMIM:619064
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Cirrhosis, N... OMIM:214900
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Hypopigmentation of hair, Hypopigmentation of the skin, Tongue thrustin... ORPHA:98795
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Mucopolysaccharidosis, Type Iiib
Coarse hair, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Synophrys, Cardiomegaly, ... OMIM:252920
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Sensorineural hearing impairment, Generalized myoclonic seizure, Inability to walk, Lower limb sp... OMIM:616756
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Histiocytoid Cardiomyopathy
Renal cyst, Congenital aphakia, Tachypnea, Corneal opacity, Cough, Failure to thrive, Hemiplegia,... ORPHA:137675
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Small for gestational age, Decreased circulating gonadotropin concentra... ORPHA:98793
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy, Sensorineural hearing impairment, Decreased circulating antibody... OMIM:604928
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Premature graying of hair, Absent eyelashes, Absent eyebrow, Papillary renal cell carc... ORPHA:363618
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Small for gestational age, Decreased circulating gonadotropin concentra... ORPHA:177904
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Paraparesis, Anemia, Ascites, Thrombocytopenia, Chron... ORPHA:79124
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Parkinsonism, Myoclonic spasms, Retinal degeneration, Motor stereoty... ORPHA:79264
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... OMIM:615513
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Small for gestational age, Decreased circulating gonadotropin concentra... ORPHA:177901
Hurler-Scheie Syndrome
Generalized hirsutism, Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopath... ORPHA:93476
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Cafe-au-lait spot, Axillary freckling OMIM:171420
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Thrombocytosis, Coombs-positive hemolytic anemia, E... OMIM:614034
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Generalized myoclonic seizure, Athetosis, Ataxia, Progressive extrapyramidal move... ORPHA:382
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Pneumonia, Lymphadenitis, Hepatosplenomegaly, Nephrotic syndrome, Colitis, Autoimmu... ORPHA:911
Cirrhotic Cardiomyopathy
Peripheral edema, Conjunctival icterus, Elevated pulmonary artery pressure, Ascites, Abnormal ble... ORPHA:57777
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Bone marrow hypocellularity, Acute myel... ORPHA:86839
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Hepatomegaly, Abnormal cardiomyo... ORPHA:367
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Emphysema, Large earlobe, Recurrent pneumonia, Hypercalciuria, Megaloblastic anemia, Hypospadias,... OMIM:219721
Meier-Gorlin Syndrome 1
Emphysema, Incomplete partition of the cochlea type II, Small for gestational age, Low-set ears, ... OMIM:224690
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Inability to walk, Cough, Gait disturbance, Pigmentary retinopathy,... ORPHA:216866
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Pancreatitis OMIM:145980
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Abnormal pyramidal sign, Shuffling gait, Agammaglobulinemia, Apraxia, Pre... ORPHA:52368
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly... ORPHA:1414
Follicular Lymphoma
Lympha