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Gene: Ppp2r5a MGI:2388479

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Gene Summary

Name:
protein phosphatase 2, regulatory subunit B', alpha
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Ppp2r5aem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Ppp2r5aem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes
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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 Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ppp2r5a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp2r5a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Sparse eyebrow, Abnormal fingernail morphology, Sparse hair, Hypoplastic toenai... ORPHA:2722
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Classic Mycosis Fungoides
Hepatomegaly, Skin ulcer, Lymphadenopathy, Abnormality of the nail, Hyperkeratosis, Abnormal lymp... ORPHA:2584
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dystrophic to... OMIM:617294
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Primary Myelofibrosis
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Extramedullary hematopoi... ORPHA:824
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Alopecia ORPHA:100025
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis, Hepatosplenomegaly... OMIM:612840
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Myelofibrosis
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra... OMIM:254450
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S... ORPHA:3361
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkera... OMIM:212360
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Hypopara... ORPHA:231222
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Jaundice, Hepatomegaly, Thick hair, Sclerosing cholangitis, Intrahepatic biliary a... OMIM:607626
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Palmoplantar erythema, Sparse hair, Pa... OMIM:104100
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, Nail dystrophy, Ridged nail, T lymphocytopenia, Nail pits, Al... OMIM:601705
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Plantar hyperkeratosis, Alopecia OMIM:616487
Monilethrix
Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair ... OMIM:158000
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Sézary Syndrome
Nail dystrophy, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Dry skin, Splenome... ORPHA:3162
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
L-Ferritin Deficiency
Alopecia OMIM:615604
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Candidiasis, Familial, 1
Alopecia OMIM:114580
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Small nail, Anemia of inadequate production, Reticulocytosis, Poi... OMIM:615631
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma, Onycholysis, Facial hypertrichosis, Alopecia OMIM:176100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Dry skin, Abnormal fingernail morphology, Abnormal toenail morphology, ... ORPHA:248
Beta-Thalassemia
Hepatomegaly, Anemia, Skin ulcer, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemogl... ORPHA:848
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Trichodysplasia, Brittle hair, Absent eyelashes, Dry skin, Absent eyebrow, Sparse... ORPHA:2890
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Dry skin, Abnormal testis morp... ORPHA:317
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Dry skin, Cutis l... ORPHA:2269
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Skin ulcer, Hypoparathyroidism, Decreased mea... ORPHA:231226
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Skin ulcer... ORPHA:231214
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Leishmaniasis
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, P... ORPHA:507
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Portal hypert... ORPHA:59303
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Erythema, Scarring alopecia of scalp ORPHA:346
Lichen Planopilaris
Skin ulcer, Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Hepatitis, Alopecia ORPHA:525
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratotic papule, Plantar hyperkerato... ORPHA:79397
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Nail dystrophy, Onychogryposis, Hyperkeratosis, Scaling skin on fingertip, Honeyco... ORPHA:79395
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenail... ORPHA:2325
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Dry skin, Sp... ORPHA:39041
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Sparse hair, Palmoplantar ... ORPHA:2251
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Crandall Syndrome
Brittle hair, Abnormal testis morphology, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fi... ORPHA:202
Hypotrichosis 5
Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse eyelashes, Th... OMIM:612841
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Hepatomegaly, Anemia, Dystrophic toenail, Patchy al... ORPHA:2930
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Absent pubic hair, Slow-growing hair, Small nail, A... OMIM:129500
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Long eyebrows, Long eyelashes, Sparse hair... OMIM:275400
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Prolidase Deficiency
Hepatomegaly, Anemia, Skin ulcer, Facial hirsutism, Petechiae, Low posterior hairline, Prolonged ... OMIM:170100
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Hypopigmentation of hair, Pa... ORPHA:79477
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Splenomegaly, Hypere... OMIM:615387
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Erythema, Diffuse palmoplantar hyperkeratosis ORPHA:2337
Prolidase Deficiency
Hepatomegaly, Skin ulcer, Hyperkeratosis, Hirsutism, Dry skin, White forelock, Abnormal fingernai... ORPHA:742
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:615704
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Centrifugal Lipodystrophy
Scaling skin, Lymphadenitis, Erythema, Alopecia ORPHA:90156
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Psoriasiform lesion, Decreased pro... ORPHA:169154
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Alopecia totalis, Palmoplantar hyperkera... OMIM:300918
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum, Alopecia OMIM:616576
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Nail dystrophy, Lack of skin elasticity, Alopecia totalis ORPHA:1366
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8... OMIM:150550
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy... OMIM:619208
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemi... OMIM:617021
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hype... ORPHA:494
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Abnormality of the lymphatic system, Sparse scalp hair, Ascites, Absent eyebrow... ORPHA:69735
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Sparse hair, Cryptorchidis... ORPHA:3363
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Skin ulcer, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Alopecia ORPHA:50944
Olmsted Syndrome 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ... OMIM:614594
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Sparse eyelashes, Sp... OMIM:612843
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Hepatocellular ... OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Idiopathic Trachyonychia
Nail dystrophy, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periungual region, ... ORPHA:79153
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia ORPHA:1882
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmopl... OMIM:605676
Reticular Dysgenesis
Skin ulcer, Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils ORPHA:33355
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Cryoglobulinemic Vasculitis
Purpura, Hepatomegaly, Mediastinal lymphadenopathy, Skin ulcer, Petechiae, Viral hepatitis, Splen... ORPHA:91138
Bathing Suit Ichthyosis
Scaling skin, Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia ORPHA:100976
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Anemia, Splenomegaly ORPHA:75563
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum OMIM:604416
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Hemolytic anemia ORPHA:56425
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Splenom... OMIM:613313
X-Linked Agammaglobulinemia
Skin ulcer, Anemia, Neutropenia, Abnormality of the tonsils, Abnormality of the lymphatic system,... ORPHA:47
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... OMIM:616278
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Alopecia of scalp, Nail dystrophy, Dry skin, Multinodular goiter, Palmoplantar kera... OMIM:618373
Pseudopelade Of Brocq
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:129
Cortisone Reductase Deficiency 1
Hirsutism, Alopecia OMIM:604931
Isolated Agammaglobulinemia
Skin ulcer, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lym... ORPHA:229717
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Alopecia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coo... OMIM:304790
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Systemic Lupus Erythematosus 17
Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Alopecia OMIM:301080
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Hepatomegaly, Brittle hair ORPHA:50812
Griscelli Syndrome
Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Silver-gray hair, Abnormal ey... ORPHA:381
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Congenital Syphilis
Palmoplantar scaling skin, Purpura, Anemia, Pancreatitis, Lymphadenopathy, Petechiae, Prolonged n... ORPHA:499009
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia OMIM:242300
Free Sialic Acid Storage Disease
Ascites, Hepatomegaly, Splenomegaly, Skin ulcer ORPHA:834
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Generalized hirsutism, Splenomegaly ORPHA:93476
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos... OMIM:259720
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormal hair morphology ORPHA:2028
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long... ORPHA:3051
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Chilblain Lupus 1
Abnormality of the nail, Skin ulcer OMIM:610448
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Scaling skin, Lymphadenopathy, B lymphocytopenia, Patchy alopecia, T... OMIM:606367
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, Thrombocytopenia, S... ORPHA:158029
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Anemia, Petechiae, Splenomegaly OMIM:620296
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly, Hirsutism ORPHA:313855
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Scaling skin, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Sparse s... ORPHA:90368
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Patchy alopecia, Plantar hyperkeratosis, Fragile nails OMIM:226650
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Pallor ORPHA:163596
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Alopecia totalis ORPHA:700
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splen... OMIM:214900
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Adult Syndrome
Breast hypoplasia, Skin ulcer, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, S... ORPHA:978
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Premature graying of hair, Nail dystrophy, Cirrhosis, Anemia, Ridged nail, Incre... OMIM:127550
Acrogeria
Fine hair, Skin ulcer, Excessive wrinkled skin ORPHA:2500
Chilblain Lupus
Hyperkeratosis, Skin ulcer, Chronic myelomonocytic leukemia ORPHA:90280
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Aplastic/hypoplastic toenail... ORPHA:1775
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Alopecia of scalp, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia,... OMIM:602450
Ollier Disease
Lymphangioma, Anemia, Skin ulcer ORPHA:296
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Erythema, Ridged nail, Breast aplasia, Onychog... OMIM:308300
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Ichthyosis, Congenital, Autosomal Recessive 2
Thin nail, Small nail, Abnormal hair morphology, Hyperkeratosis, Palmoplantar keratoderma, Erythe... OMIM:242100
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Hereditary Elliptocytosis
Jaundice, Skin ulcer, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundic... ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:602347
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Alopecia OMIM:275630
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Hydrocele testis, Pulmonar... OMIM:137940
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thick hair, Spl... OMIM:613489
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pachyonychia Congenita
Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Alopecia, Linear arrays of ... ORPHA:2309
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma, Erythema, Alop... ORPHA:659
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer, Generalized hirsutism ORPHA:2218
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegaly, Lymphade... ORPHA:858
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Fine hair, Sparse hair, Alopecia ORPHA:1839
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Skin ulcer, Splenomegaly, Abnormality o... ORPHA:379
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Petechiae, Ne... OMIM:603909
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Dry skin, Alopecia ORPHA:177
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia OMIM:247100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia OMIM:611804
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Mixed Connective Tissue Disease
Purpura, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, He... ORPHA:809
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly, Fair hair OMIM:269920
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Premature graying of hair, Nail dystrophy, Nail dysplasia, Anemia, Macrocytic an... OMIM:613990
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Synophrys, Splenomegaly, Cardiomegaly, Coarse hair OMIM:252920
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Fragile nails, Sparse hair, P... OMIM:242150
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424019
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Brooke-Spiegler Syndrome
Skin ulcer, Trichoepithelioma, Skin appendage neoplasm, Abnormality of the submandibular glands, ... ORPHA:79493
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab... OMIM:607823
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer ORPHA:312
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Alopecia OMIM:241090
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Brittle hair, Uncombable hair, Woolly hair, Chroni... OMIM:614602
Neonatal Lupus Erythematosus
Aplastic anemia, Parakeratosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase c... ORPHA:398124
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Hepatomegaly, Perioral erythema, Dry skin, Perianal erythema, Decreased testic... OMIM:201100
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Thrombocytopenia, Alopecia OMIM:617443
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... OMIM:269200
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Tangier Disease
Nail dysplasia, Nail dystrophy, Hepatomegaly, Dry skin, Splenomegaly, Left ventricular hypertrophy OMIM:205400
Porphyria, Congenital Erythropoietic
Jaundice, Loss of eyelashes, Hepatomegaly, Cholelithiasis, Absent eyebrow, Thrombocytopenia, Sple... OMIM:263700
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl... OMIM:613490
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Erythema OMIM:619183
Menkes Disease
Cutis laxa, Alopecia, Sparse hair, Brittle hair OMIM:309400
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Hyperkeratosis, Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Congenital Ichthyosiform Erythroderma
Palmoplantar keratoderma, Abnormality of the nail, Alopecia ORPHA:79394
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Flynn-Aird Syndrome
Skin ulcer, Alopecia ORPHA:2047
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechia... ORPHA:294
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Premature graying of hair, Increased mean corpuscular volume, Portal hypertension, Thrombocytopen... OMIM:620367
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hirsutism, Synophrys, Splenomegaly, Coarse hair OMIM:252900
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Atrichia, Decreased testicular size, Congenital abnormal hair pattern, Cryptorchi... ORPHA:1867
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple... OMIM:614034
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Mogs-Cdg
Hepatomegaly, Hirsutism, Long eyelashes, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, ... ORPHA:79330
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis OMIM:609638
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Synophrys, Thrombocytope... OMIM:606003
Hypomelanosis Of Ito
Alopecia OMIM:300337
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Neoplasm of the pancreas, Lymphadenopathy, Abnormal peritoneum morphology, ... ORPHA:83469
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Skin vesicle, Hypoplastic fingernail, Alopecia ORPHA:257
Chronic Mucocutaneous Candidiasis
Skin ulcer, Abnormality of the nail, Hyperkeratosis, Broad nail, Abnormal fingernail morphology, ... ORPHA:1334
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Dry skin, Splenomegaly, Palmoplantar hyperkeratosis, H... OMIM:617388
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia OMIM:614564
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, A... ORPHA:50918
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis ORPHA:701
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hirsutism, Synophrys, Splenomegaly, Hypertrichosis, Coarse hair OMIM:252930
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Dry skin, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:610768
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Purpura, Abnormal T cell count, Abnormal B cell count, Autoimmune ... OMIM:613496
Aplasia Cutis Congenita
Skin ulcer, Erythema ORPHA:1114
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow,... ORPHA:3253
Adams-Oliver Syndrome
Cirrhosis, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Ascites, Portal hypertension, Ab... ORPHA:974
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Acrodermatitis Enteropathica
Skin ulcer, Ridged nail, Abnormality of the nail, Dry skin, Abnormal eyebrow morphology, Ridged f... ORPHA:37
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Dry skin, Alopecia OMIM:618282
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Necrobiosis Lipoidica
Skin ulcer, Erythema, Abnormality of neutrophil physiology ORPHA:542592
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Renpenning Syndrome
Decreased testicular size, Abnormal hairshaft morphology, Thin eyebrow, Alopecia ORPHA:3242
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ... OMIM:257200
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Posterior pituitary hypoplas... ORPHA:75389
Papa Syndrome
Skin ulcer, Lymphadenopathy ORPHA:69126
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Dracunculiasis
Skin ulcer ORPHA:231
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Alopecia ... OMIM:240300
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia OMIM:618840
Sialuria
Hepatomegaly, Hypoplastic nipples, Hirsutism, Low posterior hairline, Synophrys, Generalized hirs... OMIM:269921
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia OMIM:164180
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Skin ulcer, T lymphocytopenia ORPHA:217390
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Spars... OMIM:158310
Macrocephaly/Autism Syndrome
Hepatomegaly, Cutis laxa, Splenomegaly, Lymphopenia, Coarse hair, Hydrocele testis OMIM:605309
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Hyperkeratosis, Thrombocytopenia, Lymphopenia, Granulocytopenia ORPHA:454831
Biotinidase Deficiency
Hepatomegaly, Splenomegaly, Alopecia OMIM:253260
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphaden... OMIM:615688
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic a... ORPHA:93552
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Infantile Myofibromatosis
Skin ulcer, Neoplasm of the pancreas, Abnormal hair morphology ORPHA:2591
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Leprosy
Loss of eyelashes, Acral ulceration, Hyperkeratosis, Penetrating foot ulcers, Absent eyebrow, Spa... ORPHA:548
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal granulocyte morph... ORPHA:98907
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal... ORPHA:905
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Purpura, Jaundice, Anemia, Hemophagocytosis,... ORPHA:540
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Dry skin, Splenomegaly, Sparse hair, Aplasia of the sweat glands OMIM:612132
Meige Disease
Absence of lymph node germinal center, Skin ulcer, Lymph node hypoplasia, Cobblestone-like hyperk... ORPHA:90186
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Werner Syndrome
Premature graying of hair, Skin ulcer, Ovarian neoplasm, Aplasia/Hypoplasia of the testes, Hyperk... ORPHA:902
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
H Syndrome
Enlarged kidney, Lymphadenopathy, Decreased testicular size, Abnormal eyebrow morphology, Hepatos... ORPHA:168569
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Dermatoosteolysis, Kirghizian Type
Abnormality of the nail, Dystrophic fingernails, Dystrophic toenail, Skin ulcer ORPHA:1657
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly, Hypopigmentation of hair OMIM:618541
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Cardiomegaly, A... ORPHA:158687
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Dystrophic fingernails, Skin ulcer, Abnormal hair morphology, Eosinophilia, Skin vesicle, Paronychia ORPHA:2314
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Low anterior hairline,... ORPHA:99812
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Incontinentia Pigmenti
Skin ulcer, Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Hyperkerat... ORPHA:464
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit... ORPHA:131
Reynolds Syndrome
Cirrhosis, Skin ulcer, Jaundice, Hepatomegaly, Ascites ORPHA:779
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Hepatomegaly, Lym... OMIM:214500
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... OMIM:619802
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Tarp Syndrome
Abnormal hair pattern, Extramedullary hematopoiesis, Thick eyebrow, Cryptorchidism ORPHA:2886
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Alopecia OMIM:612079
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer, Adenoma sebaceum ORPHA:493
Aredyld Syndrome
Sparse body hair, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Buerger Disease
Skin ulcer ORPHA:36258
Diffuse Cutaneous Mastocytosis
Scaling skin, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormal... ORPHA:79456
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Adams-Oliver Syndrome 2
Small nail, Low anterior hairline, Alopecia OMIM:614219
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Nephroblastoma
Lymphadenopathy ORPHA:654
American Trypanosomiasis
Lymphadenopathy, Pallor, Hepatomegaly, Splenomegaly ORPHA:3386
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia ORPHA:79242
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, Hepatomegaly, Redundant skin, Hypoplastic nipples, Sparse eyel... OMIM:230740
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Anemia, Alopecia OMIM:175500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer ORPHA:743
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia ORPHA:2316
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Nail dystrophy, Elevated circulating hepatic transaminase concentrat... ORPHA:37042
Adult-Onset Still Disease
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, L... ORPHA:829
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Immunodeficiency 10
Autoimmune hemolytic anemia, Nail dysplasia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte c... OMIM:612783
Johanson-Blizzard Syndrome
Anemia, Abnormal hair pattern, Exocrine pancreatic insufficiency, Abnormality of the pancreas, Al... ORPHA:2315
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... ORPHA:77259
Takayasu Arteritis
Skin ulcer, Anemia ORPHA:3287
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Abnormal Hair, Joint Laxity, And Developmental Delay
Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia OMIM:261990
Poikiloderma With Neutropenia
Nail dystrophy, Hyperkeratosis, Low posterior hairline, Sparse lateral eyebrow, Sparse eyebrow, L... OMIM:604173
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Ly... OMIM:615895
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Macs Syndrome
Redundant skin, Cutis laxa, Sparse eyebrow, Sparse hair, Cryptorchidism, Alopecia OMIM:613075
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Pallor ORPHA:90033
Kury-Isidor Syndrome
Hypertrichosis, Alopecia OMIM:619762
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Giant Cell Arteritis
Skin ulcer, Mediastinal lymphadenopathy, Hepatic failure, Alopecia ORPHA:397
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Pallor ORPHA:99931
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia ORPHA:3143
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomega... OMIM:300972
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, Low posterior ... ORPHA:2959
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer, Neutropenia, Lymphopenia OMIM:620443
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Hepatomegaly, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Ascites... OMIM:235255
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Anemia, Alopecia OMIM:226600
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Alopecia ORPHA:85284
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal natural kille... ORPHA:79124
Adams-Oliver Syndrome 6
Hepatic fibrosis, Splenomegaly, Portal hypertension, Hypoplastic toenails OMIM:616589
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Alopecia ORPHA:3224
Syndromic Diarrhea
Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Uncombable... ORPHA:84064
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Adams-Oliver Syndrome 5
Dystrophic toenail, Portal vein thrombosis, Absent toenail, Splenomegaly, Right ventricular hyper... OMIM:616028
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... OMIM:208540
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Pyoderma gangrenosum, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymp... ORPHA:486
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hirsutism, Alopecia OMIM:615830
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Cryptorchidism, Alopecia ORPHA:228390
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Alopecia OMIM:616367
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Pyoderma gangrenosum, Hepatic failure ORPHA:49566
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Erythema ORPHA:33577
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Alopecia OMIM:601853
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Abnormal fingernail morphology, Hypoparathyroidism, Alopecia ORPHA:3453
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Ecchymosis, Stomatocyt... OMIM:153670
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer, Myeloid leukemia ORPHA:48104
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Sple... ORPHA:1655
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Thrombocytopenia, Cholelithiasis, Normochromic anemia OMIM:618775
Short Syndrome
Excessive wrinkled skin, Sparse hair, Alopecia ORPHA:3163
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Alopecia ORPHA:412057
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Macronodular adrenal hyperplasia, Hirsutism, Primary hyperparathyroidism, Pituitary adenoma, Hepa... ORPHA:189427
Dyskeratosis Congenita, Digenic
Nail dystrophy, Anemia, Sparse eyelashes, Decreased testicular size, Alopecia OMIM:620040
Keutel Syndrome
Alopecia ORPHA:85202
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Small nail, Absent eyelashes, Sparse scalp hair, Bilateral cryptorchidism, Absent eyebrow, Sparse... ORPHA:544488
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Decreased response to growth hormone stimulation test, Abnormality of the periung... ORPHA:293978
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Alopecia OMIM:620651
Poems Syndrome
Leukonychia, Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, I... ORPHA:2905
Toxic Epidermal Necrolysis
Skin ulcer, Elevated circulating hepatic transaminase concentration, Anemia, Pancreatitis, Thromb... ORPHA:537
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transaminase concentration, Panc... OMIM:603553
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Absent eyelashes, Abnormal eyebrow morphology, Lack of skin elasticity, Alopecia ORPHA:90153
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, Cryptorchidism, Patchy alopecia ORPHA:85279
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the... ORPHA:3130
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Psoriasiform lesion, Lymphadenopathy, Pancytopenia, Decreased propor... OMIM:614700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Absent eyelashes, Absent eyebrow, Cryptorchidism, Alopecia ORPHA:166035
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Cirrhosis, Jaundice, Hepatomegaly, Brittle hair, Cholestasis, Hepatic fibro... OMIM:222470
Trichotillomania
Alopecia OMIM:613229
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Ridged nail... OMIM:305000
Pgm3-Cdg
Skin ulcer, Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutrop... ORPHA:443811
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Alopecia of scalp, Small pituitary gland, Aplasia of the ovary, Cryptorchidism... ORPHA:2232
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Macrocytic anemi... OMIM:212750
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, T... OMIM:617591
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Anemia, Alopecia, Palmoplantar keratoderma, Erythema, Onychogryposis ORPHA:79396
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eye... ORPHA:1234
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Sideroblastic anemia, Splenomegal... OMIM:616084
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Cutis laxa, Thrombocytopenia, Leukopenia, S... OMIM:222700
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Fusariosis
Skin ulcer, Abnormality of the spleen, Peritonitis, Lymphopenia, Abnormality of the liver, Parony... ORPHA:228119
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet... OMIM:608233
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Caroli Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Intrahepatic choles... ORPHA:480520
Hajdu-Cheney Syndrome
Hepatomegaly, Skin ulcer, Dry skin, Synophrys, Abnormal fingernail morphology, Generalized hirsut... ORPHA:955
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node mor... ORPHA:85450
Pachydermoperiostosis
Hepatomegaly, Anemia, Abnormal hair quantity, Abnormal fingernail morphology, Abnormal hair patte... ORPHA:2796
Polyarteritis Nodosa
Skin ulcer, Erythema ORPHA:767
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Sparse hai... ORPHA:363618
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Livedoid Vasculopathy
Skin ulcer, Anemia, Pancytopenia, Macular purpura, Leukocytosis, Polycythemia, Ecchymosis ORPHA:542643
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Neutrophilic Dermatosis, Acute Febrile
Anemia, Erythema, Pyoderma gangrenosum OMIM:608068
Ane Syndrome
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:157954
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Nail dystrophy, Skin ulcer, Recurrent loss of toenails and fingernails OMIM:245660
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Nail dystrophy, Annular pancreas, Absent eyelashes, Sparse scalp hair,... OMIM:268400
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelas... ORPHA:35173
Wiskott-Aldrich Syndrome
Acute leukemia, Purpura, Skin ulcer, Anemia, Petechiae, Abnormal eosinophil morphology, Hypoplasi... ORPHA:906
Rothmund-Thomson Syndrome
Aplastic anemia, Nail dysplasia, Anemia, Small nail, Abnormality of the nail, Sparse eyelashes, S... ORPHA:2909
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Anterior pituitary hypoplasia, Alopecia ORPHA:453533
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Cryptorchidism, Alopecia ORPHA:1647
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia OMIM:253270
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Adrenoleukodystrophy
Alopecia OMIM:300100
Nestor-Guillermo Progeria Syndrome
Nail dystrophy, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:614008
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Small nail, Hyperkeratosis, Thyroid hypoplasia, Orthokeratosis, Erythema, Alopecia OMIM:308050
Mandibuloacral Dysplasia
Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Common Variable Immunodeficiency
Purpura, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, ... ORPHA:1572
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ... OMIM:557000
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Gapo Syndrome
Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia ORPHA:2067
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis, Neutrophilia, Splenomegaly, Hepatomegaly OMIM:612852
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Nail dysplasia, Facial erythema, Anemia, Sparse or absent eyelashes, Leukemia, S... ORPHA:221008
Hallermann-Streiff Syndrome
Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Cry... ORPHA:2108
Chime Syndrome
Acute leukemia, Skin ulcer, Hyperkeratosis, Sparse hair, Fine hair, Erythema ORPHA:3474
Leigh Syndrome
Anemia, Neutropenia, Hepatic failure, Frontal hirsutism, Hypertrichosis, Alopecia ORPHA:506
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Castleman Disease
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Limb-Mammary Syndrome
Nail dysplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nipples, Absent nipple, Dry ski... ORPHA:69085
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Nail dysplasia, Facial erythema, Anemia, Sparse or absent eyelashes, Erythema, L... ORPHA:221016
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Calciphylaxis
Secondary hyperparathyroidism, Skin ulcer ORPHA:280062
Immunodeficiency, Common Variable, 10
Alopecia totalis, Decreased response to growth hormone stimulation test, Trachyonychia OMIM:615577
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Acral ulceration, Microvesic... OMIM:256810
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Catastrophic Antiphospholipid Syndrome
Skin ulcer, Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Dermatomyositis
Facial erythema, Elevated circulating hepatic transaminase concentration, V-sign, Skin ulcer, Abn... ORPHA:221
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Skin ulcer ORPHA:2176
Primary Sjögren Syndrome
Normocytic anemia, Purpura, Skin ulcer, Lymphadenopathy, Normochromic anemia, Chronic active hepa... ORPHA:289390
Juvenile Dermatomyositis
Skin ulcer, Dry skin, Erythema, Alopecia ORPHA:93672
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Histiocytosis-Lymphadenopathy Plus Syndrome
Alopecia of scalp, Hepatomegaly, Decreased response to growth hormone stimulation test, Lymphaden... OMIM:602782
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Hirsutism, Biliary cirrhosis, Enlarged polycystic ovaries, Th... ORPHA:2298
Atypical Werner Syndrome
Premature graying of hair, Skin ulcer, Ovarian neoplasm, Abnormal hair morphology, Abnormal hair ... ORPHA:79474
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic... OMIM:203800
Autoinflammatory Disease, Systemic, With Vasculitis
Purpura, Jaundice, Anemia, Hepatomegaly, Congenital hydrocele, Parotitis, Increased B cell count,... OMIM:620376
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Hepatitis, Hepatic failure ORPHA:60
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Skin ulcer, Anemia, Cholelithiasis, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, ... ORPHA:2072
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair OMIM:613451
Blau Syndrome
Skin ulcer, Anemia, Lymphadenopathy, Abnormal salivary gland morphology, Dry skin, Splenomegaly, ... ORPHA:90340
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Alopecia ORPHA:93160
Autosomal Dominant Hypocalcemia
Abnormality of the nail, Abnormal fingernail morphology, Dry skin, Alopecia ORPHA:428
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Sparse scalp hair, Onychogryposis, Alopecia OMIM:248370
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Orofaciodigital Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Brittle hair, Dry skin, Exocrine pancrea... ORPHA:2750
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Nail dystrophy, Sparse hair, Palmoplantar keratoderma, Alopecia universalis, Follic... ORPHA:158668
Microscopic Polyangiitis
Skin ulcer, Pancreatitis, Erythema, Peritonitis ORPHA:727
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom... ORPHA:797
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Hereditary Acrokeratotic Poikiloderma
Nail dystrophy, Dystrophic fingernails, Skin ulcer, Dystrophic toenail, Palmoplantar hyperkeratos... ORPHA:2907
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Sparse body hair, Anonychia,... OMIM:106260
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424016
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly, Erythema ORPHA:53715
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:47612
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Leukonychia, Skin ulcer, Abnormal hair morphology, Abnormal eyelash morphology, Dry... ORPHA:2526
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce... OMIM:615486
Orofaciodigital Syndrome I
Ovarian cyst, Sparse hair, Hepatic cysts, Hepatic fibrosis, Pancreatic cysts, Dry hair, Alopecia OMIM:311200
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Systemic Sclerosis
Digital ulcer, Nail bed telangiectasia, Acral ulceration, Alopecia ORPHA:90291
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Nail dystrophy, Abnormal hair morphology ORPHA:90154
Xeroderma Pigmentosum
Hyperkeratosis, Dry skin, Decreased testicular size, Cryptorchidism, Erythema, Alopecia ORPHA:910
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Bartsocas-Papas Syndrome 1
Small nail, Absent eyelashes, Sparse scalp hair, Dry skin, Absent eyebrow, Bilateral cryptorchidi... OMIM:263650
Cushing Disease
Purpura, Skin ulcer, Decreased eosinophil count, Hirsutism, Sparse scalp hair, Leukocytosis, Adre... ORPHA:96253
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:549
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dysplasia, Scaling skin, Nail dystrophy, Dystrophic fingernails, Alopecia, Absent eyelashes,... OMIM:308205
Insensitivity To Pain, Congenital, With Anhidrosis
Nail dysplasia, Nail dystrophy, Sparse scalp hair, Acral ulceration OMIM:256800
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Alopecia universalis OMIM:277440
Focal Dermal Hypoplasia
Abnormality of the nail, Acute hepatic failure, Erythema, Alopecia ORPHA:2092
Malakoplakia
Orchitis, Skin ulcer, Follicular hyperplasia ORPHA:556
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Chronic Graft Versus Host Disease
Nail dystrophy, Skin ulcer, Elevated circulating hepatic transaminase concentration, Pancytopenia... ORPHA:99921
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Ascites, Lymphadenitis, Splenomegaly, Impaired oxid... OMIM:306400
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Polycystic ovaries, Hirsutism, Testicular adrenal rest tumor, Alopecia ORPHA:90795
Systemic Lupus Erythematosus
Lymphadenopathy, Thrombocytopenia, Leukopenia, Hemolytic anemia, Alopecia ORPHA:536
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis OMIM:618986
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Alopecia OMIM:613001
Sweet Syndrome
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Leukocytosis, Neutrophilia, Skin vesi... ORPHA:3243
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Splenomegaly ORPHA:436159
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Abnormality of hair texture, Splenomegaly, Pallor ORPHA:667
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Colchicine Poisoning
Leukocytosis, Alopecia ORPHA:31824
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, S... ORPHA:163746
Classical-Like Ehlers-Danlos Syndrome Type 2
Redundant skin, Cryptorchidism, Alopecia ORPHA:536532
Distal Deletion 19P
Thick eyebrow, Alopecia ORPHA:96129
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Cushing Syndrome Due To Ectopic Acth Secretion
Purpura, Skin ulcer, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinop... ORPHA:99889
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Abnormality of the nai... ORPHA:2273
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte... ORPHA:731
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Plague
Hepatomegaly, Skin ulcer, Lymphadenitis, Dry skin, Splenomegaly, Enlarged mesenteric lymph node ORPHA:707
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220393
Tyrosinemia, Type I
Enlarged kidney, Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Hepa... OMIM:276700
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Wiedemann-Rautenstrauch Syndrome
Alopecia of scalp, Broad eyebrow, Premature skin wrinkling, Small nail, Absent eyelashes, Sparse ... OMIM:264090
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hirsutism, Acut... OMIM:608594
Relapsing Polychondritis
Purpura, Hepatitis, Erythema, Alopecia ORPHA:728
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Paronychia, Acral ulceration OMIM:201300
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Hepatic steatosis, Alopecia OMIM:619321
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Leukocytosis OMIM:116920
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Biotinidase Deficiency
Alopecia ORPHA:79241
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Sympathetic Ophthalmia
Erythema, Poliosis, Alopecia ORPHA:79098
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Parkes Weber Syndrome
Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology ORPHA:90307
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600
African Trypanosomiasis
Hepatomegaly, Jaundice, Lymphadenopathy, Abnormal prolactin level, Hepatosplenomegaly, Splenomega... ORPHA:3385
Granulomatosis With Polyangiitis
Skin ulcer, Granulomatosis OMIM:608710
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Testicular neoplasm, Hyperkeratosis, Pinea... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Testicular neoplasm, Hyperkeratosis, Pinea... ORPHA:363958
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Alopecia ORPHA:2612
Oculocerebrorenal Syndrome Of Lowe
Skin ulcer, Anemia, Sparse scalp hair, Thrombocytopenia, Fine hair, Cryptorchidism, Hyperparathyr... ORPHA:534
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Woodhouse-Sakati Syndrome
Scaling skin, Decreased response to growth hormone stimulation test, Decreased testicular size, A... ORPHA:3464
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Severe Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Anemia, Abnormality of the nail, Anonychia, Paronychia, Alopecia ORPHA:79404
Autosomal Recessive Robinow Syndrome
Fingernail dysplasia, Cryptorchidism, Long eyelashes, Alopecia ORPHA:1507
Woodhouse-Sakati Syndrome
Decreased testicular size, Fine hair, Sparse hair, Alopecia OMIM:241080
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:881
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Nail dystrophy, Skin ulcer, Anemia, Elevated circulating hepatic transaminase concent... ORPHA:95455
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Autosomal Dominant Robinow Syndrome
Curly eyelashes, Onychogryposis of fingernail, Long eyelashes, Ridged fingernail, Fingernail dysp... ORPHA:3107
Cherubism
Submandibular lymph node enlargement OMIM:118400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Immunoglobulin A Vasculitis
Purpura, Skin ulcer, Orchitis, Erythema ORPHA:761
Neuroblastoma
Lymphadenopathy ORPHA:635
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Breast aplasia, Patchy alopecia, Dry skin, Sparse pubic hair, Sparse axillary hai... OMIM:181270
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Bloom Syndrome
Acute myeloid leukemia, Recurrent tonsillitis, Abnormal proportion of CD8-positive T cells, Patch... ORPHA:125
Tangier Disease
Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy ORPHA:31150
Behcet Syndrome
Patchy alopecia, Erythema OMIM:109650
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
Granulomatosis With Polyangiitis
Purpura, Skin ulcer, Pancreatitis, Granulomatosis ORPHA:900
Amoebiasis Due To Free-Living Amoebae
Skin ulcer, Increased red blood cell count ORPHA:68
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Simple Cryoglobulinemia
Purpura, Acral ulceration, Viral hepatitis, Chronic lymphatic leukemia ORPHA:91139
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia ORPHA:2136
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Loss of eyelashes, Thin eyebrow, Sparse hair, Cryptorchidism, Alopecia ORPHA:2636
Leukocyte Adhesion Deficiency
Nail dystrophy, Acute myeloid leukemia, Recurrent tonsillitis, Leukocytosis, Abnormality of neutr... ORPHA:2968
Adams-Oliver Syndrome 1
Small nail, Supernumerary nipple, Alopecia OMIM:100300
Autoimmune Lymphoproliferative Syndrome
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Alopecia ORPHA:96176
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Loss of eyelashes, Premature skin wrinkling, Dystrophic toenail, Patchy a... ORPHA:740
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Viss Syndrome
Hirsutism, Sparse scalp hair, Cutis laxa, Right ventricular hypertrophy, Hypereosinophilia, Alopecia OMIM:619472
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Vascular Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormal eyelash morphology, Abnormality of hair texture, Redundant skin... ORPHA:286
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Blau Syndrome
Skin ulcer OMIM:186580
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Brucellosis
Lymphadenopathy, Splenomegaly, Hypersplenism ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Pallister-Killian Syndrome
Sparse anterior scalp hair, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cry... OMIM:601803
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Splenomegaly ORPHA:99827
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
Leptospirosis
Lymphadenopathy ORPHA:509

Histopathology

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

There is no histopathology data for Ppp2r5a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ppp2r5a.

No publications found that use IMPC mice or data for Ppp2r5a.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ppp2r5atm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp2r5atm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ppp2r5aem1(IMPC)Mbp Exon Deletion Mice, Tissue

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