Gene Summary

Name:
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Synonyms:
BLOC-1 subunit,  BLOC-1,  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
abnormal coat/hair pigmentation Bloc1s6em1(IMPC)Mbp HOM Early adult 9.81×10-15
abnormal heart morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
improved glucose tolerance Bloc1s6em1(IMPC)Mbp HOM Early adult 6.69×10-05
abnormal skin morphology Bloc1s6em1(IMPC)Mbp HOM Early adult 0.00
increased circulating serum albumin level Bloc1s6em1(IMPC)Mbp HOM Early adult 5.09×10-06
increased circulating calcium level Bloc1s6em1(IMPC)Mbp HOM   Early adult 3.59×10-05
increased circulating total protein level Bloc1s6em1(IMPC)Mbp HOM   Early adult 4.71×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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
Ocular albinism, Hypopigmentation of the fundus, Thrombocytopenia, Leukopenia, Hypopigmentation o... 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
White hair, Abnormal hair morphology OMIM:310900
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
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
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Albinism, Prolonged bleeding time, Absent foveal reflex, Recurrent upper respi... OMIM:614075
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Hermansky-Pudlak Syndrome 2
Albinism, Neutropenia, Generalized hypopigmentation, Reduced natural killer cell activity, Chroni... OMIM:608233
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Restrictive ventilatory defect, Albinism, Pulmonary fibrosis, Bruising suscept... OMIM:614073
Hypocomplementemic Urticarial Vasculitis
Skin rash, Irregular hyperpigmentation, Hematuria, Cough, Pericardial effusion, Sensorineural hea... ORPHA:36412
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Freckles in sun-exposed areas, Albinism, Freckling, Restrict... OMIM:203300
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Epistaxis, Fair hair, Impaired collagen-induced pla... OMIM:619172
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Gait disturbance, Acute myelomonocyti... ORPHA:2585
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Chediak-Higashi Syndrome
Giant melanosomes in melanocytes, Recurrent bacterial skin infections, Neutropenia, Giant neutrop... OMIM:214500
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal fingernail morphology, Emphysema, Cough, Respiratory insufficiency, Weig... ORPHA:1164
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Netherton Syndrome
Skin rash, Irregular hyperpigmentation, Increased circulating IgE level, Abnormal hair morphology... ORPHA:634
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Low-frequency sensorineural hearing impairment, Abnormal natural killer cell ph... OMIM:613101
Hermansky-Pudlak Syndrome 10
Apnea, Dystonia, Albinism, Macrotia, Ocular albinism, Neutropenia, Bilateral tonic-clonic seizure... OMIM:617050
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Decreased pulmonary function, Emp... ORPHA:60033
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Albinism, Prolonged bleeding time, Ocular albinism, Epistaxis, Thrombocytopeni... OMIM:614074
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Diaphragmatic paralysis, Respiratory distress, Abnormal respir... ORPHA:70589
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hirsutism, Hepatomegal... OMIM:612526
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Albinism, Ocular albinism, Epistaxis, Bruising ... OMIM:614076
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Abnormal bleeding, Dyspnea, Gastrointestinal hem... ORPHA:79430
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Vici Syndrome
Cutaneous anergy, Penile hypospadias, Hypopigmentation of hair, Albinism, Developmental cataract,... OMIM:242840
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Short nose, Abnormality of extrapyramidal motor ... ORPHA:2719
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Albinism, Ocular albinism, Epistaxis, Astigmati... OMIM:614077
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Alopecia, Lymphadenopathy ORPHA:100025
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Deafness-Lymphedema-Leukemia Syndrome
Vertigo, Prolonged bleeding time, Leukocytosis, Lymphedema, Intracranial hemorrhage, Chronic otit... ORPHA:3226
Fechtner syndrome
Abnormal bleeding, Developmental cataract, Hematuria, Prolonged bleeding time, Bruising susceptib... OMIM:153640
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Abnormal renal tubule morphology, Hypochromic anemia, Abnormality of neutr... ORPHA:2720
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia, Cataract, Hearing impairment, Seizure, Failure to thrive... ORPHA:67048
Attenuated Chédiak-Higashi Syndrome
Incoordination, Abnormality of extrapyramidal motor function, Hypertonia, Bruising susceptibility... ORPHA:352723
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Ascites, Hypercalcemia, Abnormality of the liver OMIM:240150
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomeg... ORPHA:29073
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Hydrops fetalis, Proteinuria, Gait distu... ORPHA:834
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Presenile... ORPHA:182050
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Neutropen... ORPHA:238459
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Acute kidney injury, Decreased mean corpuscu... ORPHA:244242
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Cardiorespiratory arrest, Pericarditis, Leukocytosis, Pleural e... ORPHA:188
Immunodeficiency 20
Wheezing, Recurrent otitis media, Recurrent sinusitis, Reduced natural killer cell count, Recurre... OMIM:615707
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Hypophosphatasia
Emphysema, Respiratory insufficiency, Failure to thrive in infancy, Seizure, Anemia ORPHA:436
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, R... OMIM:242700
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Blue Diaper Syndrome
Abnormal abdomen morphology, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Aminoaciduria, Ataxia, Thrombocytopenia, Macrothrombocytopenia... OMIM:603585
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Macrothrombocytopenia and progressive sensorineural deafness
Progressive sensorineural hearing impairment, Abnormal bleeding, Prolonged bleeding time, Abnorma... OMIM:600208
Chédiak-Higashi Syndrome
Skin rash, Vacuolated lymphocytes, Pericardial effusion, Large clumps of pigment irregularly dist... ORPHA:167
Klippel-Trénaunay Syndrome
Hydrops fetalis, Hematuria, Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anem... ORPHA:90308
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neu... ORPHA:381
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Autoimmune thrombocytopen... ORPHA:1572
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Abnormal hair morphology OMIM:152800
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Failure to thrive, Splenomegaly OMIM:269840
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Persistent bleeding after trauma, Abnormal bleeding, Prolonged ble... OMIM:277480
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Abnormality of retinal pigmentation, Emphysema, Renal cell carcinoma, Pn... ORPHA:122
Wild Type Attr Amyloidosis
Pleural effusion, Pedal edema, Nephropathy, Weight loss, Abnormal pulmonary interstitial morpholo... ORPHA:330001
Mixed Connective Tissue Disease
Skin rash, Pleuritis, Joint swelling, Pericarditis, Xerostomia, Leukopenia, Myocarditis, Pulmonar... ORPHA:809
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Ectopia lentis, ... OMIM:604571
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Glycosuria, Decreased ... OMIM:618913
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Pneumonia, Abnormal delayed hypersensitivi... OMIM:600903
Ethanolaminosis
Cardiomegaly OMIM:227150
Hermansky-Pudlak Syndrome 9
Ocular albinism, Hypopigmentation of the fundus, Thrombocytopenia, Leukopenia, Hypopigmentation o... OMIM:614171
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of extrapyramidal motor function, Hypertonia, Respirat... ORPHA:79139
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Edema, Pulmonary edema... OMIM:267450
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Bardet-Biedl Syndrome 16
Renal insufficiency, Respiratory distress, Rod-cone dystrophy, Bronchiolitis, Recurrent otitis me... OMIM:615993
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy ORPHA:69077
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis, Nephrotic syndrome ORPHA:60
Riboflavin Transporter Deficiency
Iris hypopigmentation, Tremor, Sleep apnea, Ataxia, Respiratory insufficiency, Seizure, Myoclonus... ORPHA:97229
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Low-set ears, Anteverted nares, Chro... OMIM:614069
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Cocaine Intoxication
Wheezing, Hematuria, Acute kidney injury, Cough, Cerebral hemorrhage, Pulmonary edema, Respirator... ORPHA:90068
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Hyperpigmentation of the skin, Anemia, Sple... ORPHA:75563
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... OMIM:611584
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Lymphangioleiomyomatosis
Abnormality of skin pigmentation, Hematuria, Cough, Multiple renal cysts, Retinal hamartoma, Ungu... ORPHA:538
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Lymphatic Malformation 7
Respiratory distress, Lymphedema, Pericardial effusion, Facial edema, Edema, Pulmonary edema, Ane... OMIM:617300
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Cough, Pericardial effusion, Weight loss, Pancytopenia, Hypercalciuria, Optic neu... OMIM:181000
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Pneumonia, Neutropenia, Abnormal trach... ORPHA:1163
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar he... OMIM:616050
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Hypercalcemia, Ascites, Anemia ORPHA:2123
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Glucose intolerance, Increased serum iro... OMIM:235200
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Recurrent aspiration pneumonia, Tremor, Clumsiness, Difficulty walking, Atonic... ORPHA:2590
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Dyspnea, Fatiguable weakness of proximal limb muscles, Cough, Abnormal... ORPHA:90117
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Lymphad... OMIM:615895
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Tremor, Premature graying of hair, Hypertonia, Macular dystrophy, Ataxi... ORPHA:33445
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, E... OMIM:614493
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Pulmonar... ORPHA:70587
Adamantinoma
Hypercalcemia ORPHA:55881
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Alopecia, Eczema, Psoriasiform derm... OMIM:617443
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Ethylene Glycol Poisoning
Episodic respiratory distress, Hematuria, Renal tubular dysfunction, Tachypnea, Renal tubular epi... ORPHA:31826
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Optic disc hypoplasia, Wide nasal bridge, Sensorineural hearing impairment, Aspiration pneumonia,... OMIM:609528
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding, Giant platelets OMIM:608404
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Seizure, Obesity, Hyperactivity, Hypopig... ORPHA:411515
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Partially duplicated kidney, Gastrointestina... ORPHA:274
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Bronchiectasis, Recurrent urinary tract infections, P... ORPHA:2968
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Cafe-au-lait spot, Anemi... OMIM:615234
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media... OMIM:601495
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Ascites, Hypoal... OMIM:617156
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Acute leukemia... ORPHA:906
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Agammaglobulinemia, Recurrent respiratory i... OMIM:300310
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, Elevated pulmonary arte... ORPHA:199241
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Pancreatitis,... ORPHA:70578
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Prolonged bleeding time, Reticulocytosis, Hirsutism, Epistaxis, Thrombocytopeni... OMIM:314050
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hemophagocytosis, Premature graying of hair, Hyp... ORPHA:79477
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, L... ORPHA:3392
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Conjugated hyperbilirubinem... OMIM:616860
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Splenomegaly, ... OMIM:608971
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Acute kidney injury, Increased inflammatory response, Pleural effusion, Respiratory fa... ORPHA:542323
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, Hypertonia, White hair, Ataxia, Seizure, Partia... ORPHA:79476
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Abnormal hair quantity ORPHA:1116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Panhyp... OMIM:601457
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Hepatomega... OMIM:235255
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Hyperpigmentation of the s... OMIM:602390
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Se... ORPHA:999
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract inf... OMIM:613179
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Ocular albinism, Wide nasal bridge, Cupped ear, Myoclonus, Microtia ORPHA:1352
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Seizure, Emphysema OMIM:210050
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Respiratory distress, Parkinsonism with favorable response to dopa... ORPHA:240103
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypoa... ORPHA:507
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphopenia, Chylous ascites, Abnormality of the lymphatic system ORPHA:90363
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Fabry Disease
Conjunctival telangiectasia, Hematuria, Proteinuria, Corneal opacity, Respiratory insufficiency, ... ORPHA:324
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoa... OMIM:602579
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Skin rash, Purpura, Decreased circulating antibody l... ORPHA:540
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Oculoskeletodental Syndrome
Hypocalcemia, Low anterior hairline, Hepatomegaly, Hypercalcemia, Splenomegaly, Low posterior hai... OMIM:618440
Usher Syndrome Type 1
Iris hypopigmentation, Ataxia, Cataract, Sensorineural hearing impairment, Abnormal cochlea morph... ORPHA:231169
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Fair hair, Hepatomegaly, Ascites, Cardiome... OMIM:269920
Usher Syndrome Type 3
Iris hypopigmentation, Ataxia, Cataract, Sensorineural hearing impairment, Astigmatism, Abnormal ... ORPHA:231183
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Sarcoidosis
Joint swelling, Bronchiectasis, Cough, Maculopapular exanthema, Weight loss, Hypercalciuria, Leuk... ORPHA:797
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Congenital Disorder Of Glycosylation, Type Iic
Febrile seizure (within the age range of 3 months to 6 years), Bulbous nose, Bronchiolitis, Recur... OMIM:266265
Macs Syndrome
Prolonged bleeding time, Sparse hair, Bronchiectasis, Palpebral edema, Decreased body weight, Ure... OMIM:613075
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Scorpion Envenomation
Tremor, Paresthesia, Acute kidney injury, Purpura, Hyperkinetic movements, Abnormal nasal mucus s... ORPHA:466677
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Weight loss, Ost... ORPHA:31204
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Abnormal macular morphology, Giant melanosomes in melanocytes, ... ORPHA:54
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Pericardial effusion, Hypoalb... ORPHA:90362
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Hematuria, Autoimmune thrombocytopenia, Vertigo, Intr... ORPHA:324636
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Otitis media, T... ORPHA:229717
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Autosomal Dominant Cutis Laxa
Emphysema ORPHA:90348
Immunodeficiency, Common Variable, 8, With Autoimmunity
Vitiligo, Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Pneum... OMIM:614700
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Hearing impairment, Aspiration pneumonia, Respiratory failure, Myo... OMIM:619057
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Hepatomega... ORPHA:1655
Leptospirosis
Pericarditis, Hyperproteinemia, Thrombocytopenia, Jaundice, Hepatitis, Hepatomegaly, Lymphadenopathy ORPHA:509
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Johanson-Blizzard Syndrome
Hypoproteinemia, Exocrine pancreatic insufficiency, Dextrocardia, Abnormality of the pancreas, An... ORPHA:2315
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Idiopathic Achalasia
Wheezing, Cough, Weight loss, Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Pseudohypoparathyroidism Type 1A
Dyspnea, Paresthesia, Elevated calcitonin, Decreased response to growth hormone stimuation test, ... ORPHA:79443
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Pancreatitis, Dilated cardio... OMIM:618805
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Hypercalcemia, Mediastinal lymphad... ORPHA:97289
Neurofibromatosis-Noonan Syndrome
Low-set, posteriorly rotated ears, Abnormality of the helix, Prolonged bleeding time, Multiple ca... ORPHA:638
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, J... ORPHA:98807
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale... ORPHA:26793
Ellis Van Creveld Syndrome
Hypoplastic toenails, Abnormality of the nail, Acute leukemia, Abnormal hair morphology, Hydroure... ORPHA:289
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
1P36 Deletion Syndrome
Sensorineural hearing impairment, Abnormality of the kidney, Depressed nasal bridge, Obesity, Ocu... ORPHA:1606
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Hepatic steatosis, Endocardial fibroelastosis, Impair... OMIM:212140
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen ovale, Tetral... OMIM:601005
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Increased circulating procalcit... ORPHA:36238
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Waddling gait, Pneumonia, Respiratory insufficiency ORPHA:97244
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Conductive hearing impairment, Emphysema, Decreased respon... OMIM:616835
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulat... OMIM:617514
Mastocytosis
Abnormality of skin pigmentation, Chronic leukemia, Hepatomegaly, Hypercalcemia, Splenomegaly, Ma... ORPHA:98292
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating... OMIM:616576
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Abnormalit... ORPHA:79431
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Meier-Gorlin Syndrome 4
Breast hypoplasia, Emphysema, Low-set ears, Failure to thrive, Microtia OMIM:613804
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Polyhydramnios, Hyposthenuria, Paresthesia, Macrotia, Renal potass... OMIM:241200
Ataxia-Telangiectasia
Hypopigmentation of hair, Tremor, Premature graying of hair, Decreased circulating antibody level... ORPHA:100
Loeys-Dietz Syndrome 4
Emphysema, Tall stature, Torticollis, Flat cornea, Bruising susceptibility, Pneumothorax, Eosinop... OMIM:614816
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion... ORPHA:723
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:600649
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Seizure, Pneumonia ORPHA:85179
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Cholestasis, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Hypoalbu... OMIM:608104
Cardiomyopathy, Familial Hypertrophic, 4
Pericardial effusion, Ascites, Dyspnea, Pulmonary edema OMIM:115197
Hemophilia B
Cephalohematoma, Prolonged bleeding after surgery, Prolonged bleeding time, Hematuria, Joint hemo... ORPHA:98879
Simpson-Golabi-Behmel Syndrome, Type 2
Small nail, Short nose, Anteverted nares, Recurrent upper respiratory tract infections, Pneumonia... OMIM:300209
Infantile Myofibromatosis
Neoplasm of the pancreas, Irregular hyperpigmentation, Hypercalcemia, Abnormal hair morphology ORPHA:2591
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Bronchiectasis, Decreased specific anti-polysa... OMIM:300853
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Pleural effusion, Peripheral edema, Hirsutism, Ascites,... ORPHA:64739
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Respiratory insufficiency, Microcornea, Large for gestational age, Recurrent res... ORPHA:2432
Mohr-Tranebjaerg Syndrome
Dystonia, Sensorineural hearing impairment, Generalized dystonia, Vestibular dysfunction, Abnorma... ORPHA:52368
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Abnormality of the antihelix, Spastic paraparesis, Bulbous nose, Recurrent respiratory infections... ORPHA:3041
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Essential Thrombocythemia
Prolonged bleeding time, Paresthesia, Splenomegaly, Abnormal thrombocyte morphology, Abnormal pla... ORPHA:3318
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Oligohydramnios, Emphysema, Cough, Respiratory insufficiency, Pancytopenia, Abnorm... OMIM:613658
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Histiocytoid Cardiomyopathy
Hemiplegia, Congenital aphakia, Lethargy, Cough, Corneal opacity, Seizure, Megalocornea, Laryngea... ORPHA:137675
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of the skin, Splenomegaly OMIM:618541
Whim Syndrome
Vitiligo, Recurrent pneumonia, Respiratory tract infection, Severe periodontitis, Bronchiectasis,... ORPHA:51636
Gaucher Disease, Type Ii
Apnea, Oculomotor apraxia, Thrombocytopenia, Seizure, Anemia, Splenomegaly, Failure to thrive, Re... OMIM:230900
Mehmo Syndrome
Inability to walk, Gait ataxia, Macrotia, Difficulty walking, Spastic tetraparesis, Decreased res... OMIM:300148
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Prader-Willi Syndrome
Abdominal obesity, Iris hypopigmentation, Hypopigmentation of hair, Sleep apnea, Hypoventilation,... OMIM:176270
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Hepatic steatosis, Hepatocellular carcinoma, Hepatic fibro... ORPHA:247585
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, An... OMIM:606069
Edinburgh Malformation Syndrome
Brushfield spots, Short nose, Hypertonia, Hirsutism, Choanal atresia, Respiratory insufficiency, ... ORPHA:1895
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly OMIM:619013
Urocanase Deficiency
Tremor, Ataxia, Fair hair, Urocanic aciduria, Blue irides OMIM:276880
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the lymph nodes, Hyperuricemi... ORPHA:543
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Pulmonic stenosis, Aortic valve stenosis OMIM:143880
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Cutis Laxa, Autosomal Recessive, Type Ia
Oligohydramnios, Emphysema, Bladder diverticulum, Overgrowth, Recurrent respiratory infections OMIM:219100
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Increased circulat... ORPHA:169160
Classic Mycosis Fungoides
Irregular hyperpigmentation, Abnormality of the nail, Abnormal lymphocyte morphology, Hypopigment... ORPHA:2584
Avian Influenza
Acute kidney injury, Cough, Pneumonia, Leukopenia, Ground-glass opacification, Respiratory distre... ORPHA:454836
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Astigm... OMIM:203100
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Gait imbalance, Ataxia, Seizure, Obesity, Tongue... ORPHA:411511
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism OMIM:300500
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Tubular Renal Disease-Cardiomyopathy Syndrome
Pericardial effusion, Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure, H... ORPHA:73224
Muscular Hypertonia, Lethal
Hypertonia, Pneumonia OMIM:254120
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia, Abnormality of the frontal hairline ORPHA:557003
Riddle Syndrome
Conjunctival telangiectasia, Clumsiness, Intraventricular hemorrhage, Pneumonia, Weight loss, Chr... ORPHA:420741
Angelman Syndrome
Keratoconus, Atonic seizure, Hyperactivity, Obesity, Iris hypopigmentation, Ataxia, Fair hair, As... ORPHA:72
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Tremor, Gait imbalance, Ataxia, Seizure, Obesity... ORPHA:98794
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Pigmentary retinopathy, Gait disturbance, Cough, Toe walking, Weight loss, Sei... ORPHA:216866
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hirsutism, Abnormal circulating lipid concentration, Hypoalbuminem... ORPHA:2298
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity ORPHA:177910
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anem... ORPHA:858
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Ataxia, Retinal dystrophy, Seizure, Obesity, Lower limb spasticity, ... OMIM:616756
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Ascites, Leukopenia ORPHA:99828
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Lcat Deficiency
Hemolytic anemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy ORPHA:650
Mental Retardation, Buenos Aires Type
Abnormality of the urinary system, Long eyelashes, Hyperconvex thumb nails, Fair hair, Wide nasal... OMIM:249630
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Atrial septal defect, Enlarged kidney, Macrovesicular hepatic steatosis, H... OMIM:617303
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Portal hypertension, Hyperbilirubi... OMIM:616278
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Fusariosis
Pulmonary opacity, Peritonitis, Bronchiectasis, Pneumonia, Neutropenia, Maculopapular exanthema, ... ORPHA:228119
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Peripheral edema, Orthopnea, Pulmonary venous hypertension, Pulmonary edema, Recurrent r... ORPHA:75249
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy ORPHA:100083
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbilirubinemia, Hepatomegaly, Jaund... OMIM:214900
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Lmna-Related Cardiocutaneous Progeria Syndrome
Sparse hair, Premature graying of hair, Absent eyelashes, Intracranial hemorrhage, Emphysema, Pap... ORPHA:363618
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Phenylketonuria
Fair hair, Seizure, Cataract, Hyperactivity, Eczema, Increased level of hippuric acid in urine, G... OMIM:261600
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Bladder diverticulum, Wide nasal bridge, Laryngomalacia, Pulmonary hyp... OMIM:613177
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Cough, Panhypogammaglobulinemia, Abnormal natural killer ... ORPHA:79124
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Large earlobe, Megaloblastic anemia, Emphysema, Recurrent bronchopulmonary infections, Wide nasal... OMIM:219721
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Clumsiness, Pigmentary retinopathy, Poor motor coordination, Poor fine motor coordination,... ORPHA:79264
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulating cre... OMIM:255120
Wyburn-Mason Syndrome
Iris hypopigmentation, Subarachnoid hemorrhage, Hemiparesis, Epistaxis, Seizure, Hearing impairme... ORPHA:53719
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Short nose, Bronchiectasis, Pneumonia, Low-se... OMIM:242860
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Noonan Syndrome
Abnormal bleeding, Thickened helices, Abnormal hair quantity, Lymphedema, Low-set, posteriorly ro... ORPHA:648
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Wolfram Syndrome 2
Neurogenic bladder, Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-in... OMIM:604928
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Hypoalbuminemia, Ascites OMIM:226300
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Pneumonia, Eosinophilia, Atopic dermatitis OMIM:617638
Oculopharyngodistal Myopathy
Progressive sensorineural hearing impairment, Restrictive ventilatory defect, Vocal cord paresis,... ORPHA:98897
Rafiq Syndrome
Broad eyebrow, Seizure, Wide nasal bridge, Obesity, Long eyebrows, Prominent nose OMIM:614202
Blue Rubber Bleb Nevus
Skin rash, Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Hemobilia, Polycythemia, Hyperbilirubinem... ORPHA:88673
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Atypical absence seizure, Gait imbalance, Bilate... ORPHA:98795
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, H... ORPHA:1667
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Generalized bronze hyperpigmentation, Cirrhosis, Ab... ORPHA:465508
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased specific antibody response to vaccination, Decreased proportion of CD4-positive helper ... ORPHA:221139
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Decreased circulating T4 level, Impaired tempera... ORPHA:98754
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Generalized hirsutism, Abnormality o... ORPHA:93476
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly, Anemia OMIM:618838
2P21 Microdeletion Syndrome
Hypocalcemia, Long eyelashes, Hypoglycemia ORPHA:163693
Monosomy 13Q34
Horizontal eyebrow, Insulin resistance, Hepatic steatosis, Pulmonic stenosis, Infantile hypercalc... ORPHA:96168
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Decreased circulating T4 level, Impaired tempera... ORPHA:98793
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Decreased circulating T4 level, Impaired tempera... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Decreased circulating T4 level, Impaired tempera... ORPHA:177901
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Long eyelashes, Synophrys, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Alpha-Mannosidosis, Adult Form
Clumsiness, Oligosacchariduria, Pneumonia, Corneal opacity, Ataxia, Pancytopenia, Cataract, Mixed... ORPHA:309288
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Noonan Syndrome 4
Polyhydramnios, Abnormal bleeding, Thickened helices, Sparse eyebrow, Curly hair, High anterior h... OMIM:610733
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Cardiomegaly, Spl... OMIM:252920
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Keratoconus, Ecchymosis, Emphysema, Pulmonary bulla, Hemothorax, Bruisi... OMIM:130050
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Cafe-au-lait spot, Axillary freckling OMIM:171420
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Reticular hyperpigmentation, Premature graying of hair, Interstitial pneumonitis, Pulm... OMIM:127550
Scedosporiosis
Abnormal renal morphology, Pleuritis, Pericarditis, Arthralgia/arthritis, Pulmonary fibrosis, End... ORPHA:449280
Addison Disease
Vitiligo, Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperuricemia, Hypoglycemia, No... ORPHA:85138
Late-Onset Isolated Acth Deficiency
Vitiligo, Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemia, Hepatitis, Type I diabete... ORPHA:199299
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepat... OMIM:300635
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Fanconi Anemia, Complementation Group F