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Gene: Ppp2r5a MGI:2388479

Gene Summary

Name:

protein phosphatase 2, regulatory subunit B', alpha

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal lymph node morphology		Ppp2r5a^em1(IMPC)Mbp	HOM		Early adult	0.00
enlarged lymph nodes		Ppp2r5a^em1(IMPC)Mbp	HOM		Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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.

Human diseases associated with Ppp2r5a (0 diseases)
Human diseases predicted to be associated with Ppp2r5a (827 diseases)

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	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	OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Hyperkerat...	ORPHA:2584
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Kerion Celsi	Alopecia, Lymphadenopathy	ORPHA:499
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Abnormal lymph...	OMIM:612840
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Splenom...	ORPHA:824
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ...	OMIM:607626
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Sézary Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Dry skin, Lymphadenopathy, Palmoplantar keratoderma, Nail d...	ORPHA:3162
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Alopecia, General...	OMIM:615559
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
L-Ferritin Deficiency	Alopecia	OMIM:615604
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis	OMIM:176100
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Palmoplantar keratoderma, Nai...	ORPHA:2890
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Dry skin, Hyper...	ORPHA:317
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ...	ORPHA:59303
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis	ORPHA:525
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Lymphadenopathy, Anem...	ORPHA:39041
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Scaling skin on fingertip, Palmoplantar hyperkeratosis, Honeycomb palmop...	ORPHA:79395
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Anemi...	ORPHA:2930
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla...	ORPHA:202
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L...	OMIM:275400
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho...	ORPHA:75564
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Non-Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pr...	ORPHA:79477
Prolidase Deficiency	Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Skin...	ORPHA:742
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc...	OMIM:615387
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg...	OMIM:170100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Centrifugal Lipodystrophy	Lymphadenitis, Alopecia, Erythema, Scaling skin	ORPHA:90156
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia	OMIM:615704
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of...	ORPHA:90368
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Pyoderma gangrenosum, Lymphadenopathy, B lymph...	OMIM:150550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of...	ORPHA:169154
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski...	ORPHA:2269
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Fibrodysplasia Ossificans Progressiva	Alopecia, Anemia	ORPHA:337
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Lack of skin elasticity	ORPHA:1366
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn...	ORPHA:494
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h...	OMIM:615234
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ...	ORPHA:3363
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cirrhosis, Hep...	OMIM:235200
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok...	OMIM:614594
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Nail dystrophy, ...	ORPHA:100976
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla...	OMIM:612843
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste...	ORPHA:69735
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative...	OMIM:619463
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na...	ORPHA:79153
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Abnormality...	ORPHA:91138
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia	ORPHA:75563
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia	ORPHA:33355
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis	OMIM:604416
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism	OMIM:612526
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
X-Linked Agammaglobulinemia	Alopecia, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepa...	ORPHA:47
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, ...	OMIM:618373
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Isolated Agammaglobulinemia	Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp...	ORPHA:229717
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair	ORPHA:50812
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Chilblain Lupus 1	Abnormality of the nail, Skin ulcer	OMIM:610448
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Skin ulcer, Hepatomegaly	ORPHA:834
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Hurler-Scheie Syndrome	Hepatomegaly, Splenomegaly, Generalized hirsutism, Abnormality of the tonsils	ORPHA:93476
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy...	OMIM:304790
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm...	ORPHA:158029
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Excessiv...	ORPHA:3051
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Increased mean pl...	OMIM:314050
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly	ORPHA:313855
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura	OMIM:620296
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple...	OMIM:602450
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ...	ORPHA:978
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Acrogeria	Excessive wrinkled skin, Skin ulcer, Fine hair	ORPHA:2500
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Premature ...	OMIM:127550
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Ollier Disease	Lymphangioma, Skin ulcer, Anemia	ORPHA:296
Chilblain Lupus	Hyperkeratosis, Skin ulcer, Chronic myelomonocytic leukemia	ORPHA:90280
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Incontinentia Pigmenti	Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Nail pits, Fin...	OMIM:308300
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Palmoplantar keratoderma...	OMIM:242100
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Skin vesicle, Sparse hair, Hep...	ORPHA:1775
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Hepatic steatosis	OMIM:275630
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Sparse ...	ORPHA:659
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Thick hair, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair	ORPHA:177
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism	OMIM:252920
Mixed Connective Tissue Disease	Hemolytic anemia, Alopecia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia	OMIM:247100
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopath...	ORPHA:379
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosi...	OMIM:603909
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le...	OMIM:613990
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites, Fair hair	OMIM:269920
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Petechiae, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Par...	ORPHA:398124
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Palmoplantar keratoderma, Cirrhosis, Sparse hair, Fragil...	OMIM:242150
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the submandibular glands, Skin u...	ORPHA:79493
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha...	OMIM:614602
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer	ORPHA:312
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Splenomegaly, Paronychia, Dry skin, Perioral erythema, Alopecia ...	OMIM:201100
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Alopecia, Increased mean platelet volume	OMIM:617443
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exo...	OMIM:269200
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Tangier Disease	Hepatomegaly, Splenomegaly, Nail dystrophy, Nail dysplasia, Left ventricular hypertrophy, Dry skin	OMIM:205400
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism	OMIM:252900
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1806
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy	OMIM:619183
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As...	OMIM:614034
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:79394
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol...	OMIM:300908
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelash...	OMIM:263700
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Bone marrow hypocellularity, Alopecia, Nail dystrophy	OMIM:616353
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Palmoplantar hyperker...	OMIM:617388
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Nail dystrophy, Atrichia, Decreased t...	ORPHA:1867
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis	OMIM:252930
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Splenomegaly,...	ORPHA:50918
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail	ORPHA:257
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Synophrys, Micronodular cirrhosis, Thrombocytopenia, He...	OMIM:606003
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Mogs-Cdg	Hepatomegaly, Alopecia, Cardiomegaly, Thrombocytopenia, Hepatosplenomegaly, Hydrocele testis, Lon...	ORPHA:79330
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Necrobiosis Lipoidica	Erythema, Skin ulcer, Abnormality of neutrophil physiology	ORPHA:542592
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Dry skin	OMIM:610768
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Erythema, Broad nail, Hepatitis, Skin ulcer, Hyperkeratosis, Abno...	ORPHA:1334
Adams-Oliver Syndrome	Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope...	ORPHA:974
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Dry skin, Eosinophilia	OMIM:618282
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail...	ORPHA:3253
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Buerger Disease	Skin ulcer	ORPHA:36258
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing...	ORPHA:37
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Thin eyebrow	ORPHA:3242
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h...	ORPHA:75389
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Skin ulcer	ORPHA:217390
Papa Syndrome	Skin ulcer, Lymphadenopathy	ORPHA:69126
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg...	ORPHA:829
Sialuria	Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Hypoplastic nipples, Generalized h...	OMIM:269921
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Dracunculiasis	Skin ulcer	ORPHA:231
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Chronic active hepatitis, Asplenia, Nail dystrophy, Cholelithiasis,...	OMIM:240300
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Biotinidase Deficiency	Splenomegaly, Alopecia, Hepatomegaly	OMIM:253260
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Infantile Myofibromatosis	Abnormal hair morphology, Neoplasm of the pancreas, Skin ulcer	ORPHA:2591
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu...	OMIM:615688
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Jaundice,...	ORPHA:540
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Thrombocytopeni...	ORPHA:905
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, S...	OMIM:158310
Acute Radiation Syndrome	Skin ulcer, Hyperkeratosis, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Meige Disease	Lymph node hypoplasia, Cobblestone-like hyperkeratosis, Skin ulcer, Absence of lymph node germina...	ORPHA:90186
Pediatric Systemic Lupus Erythematosus	Alopecia, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, T...	ORPHA:93552
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hypopigmentation of hair, Hepatomegaly	OMIM:618541
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Testicular mass, Penetrat...	ORPHA:548
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail	ORPHA:1657
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Cutis laxa, Hydrocele testis, Coarse hair, Lymphopenia	OMIM:605309
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Dry skin	OMIM:612132
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
H Syndrome	Abnormal eyebrow morphology, Alopecia, Histiocytosis, Microcytic anemia, Hepatosplenomegaly, Lymp...	ORPHA:168569
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Werner Syndrome	Sparse scalp hair, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Ovarian neoplasm, Pr...	ORPHA:902
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Micronodular cirrhosis, Abnormal granulocy...	ORPHA:98907
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense...	OMIM:214500
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, Absent toenail, Absent fingernail, ...	ORPHA:158687
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia, Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails	ORPHA:2314
Reynolds Syndrome	Hepatomegaly, Jaundice, Skin ulcer, Cirrhosis, Ascites	ORPHA:779
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Erythema, Low anterior hairline, Acute ...	ORPHA:99812
Tarp Syndrome	Cryptorchidism, Thick eyebrow, Extramedullary hematopoiesis, Abnormal hair pattern	ORPHA:2886
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph...	ORPHA:464
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Small pituitary gland	OMIM:612079
Aredyld Syndrome	Splenomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly	ORPHA:1133
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Nephroblastoma	Lymphadenopathy	ORPHA:654
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Na...	OMIM:230740
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	ORPHA:79242
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Pallor, Lymphadenopathy	ORPHA:3386
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Autoimmune Polyendocrinopathy Type 4	Alopecia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Thymoma, Hepatitis, ...	ORPHA:227990
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Takayasu Arteritis	Skin ulcer, Anemia	ORPHA:3287
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology, Hyperkeratosis	ORPHA:1005
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern, Abnormality of the pancreas, Anemia, Exocrine pancreatic insuffi...	ORPHA:2315
Autoimmune Polyendocrinopathy Type 3	Alopecia, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Biliary ...	ORPHA:227982
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestas...	OMIM:615895
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Alopecia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia...	ORPHA:37042
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor	ORPHA:90033
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia	ORPHA:3143
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Sparse eyebrow, Splenomegaly, Low posterior hairline, Leukopenia, Hyperke...	OMIM:604173
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Decreased respon...	OMIM:203800
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Microcytic anemia, Low posteri...	ORPHA:2959
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Giant Cell Arteritis	Mediastinal lymphadenopathy, Alopecia, Hepatic failure, Skin ulcer	ORPHA:397
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Hepatoblastoma, Increased m...	ORPHA:84064
Cinca Syndrome	Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Cryptorchidism, Cutis laxa, Sparse hair	OMIM:613075
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ...	ORPHA:486
Adams-Oliver Syndrome 6	Hypoplastic toenails, Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiec...	OMIM:235255
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Bresek Syndrome	Cryptorchidism, Alopecia, Decreased testicular size	ORPHA:85284
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Hirsutism	OMIM:615830
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Alopecia, Fine hair	ORPHA:228390
Acquired Purpura Fulminans	Hepatic failure, Pyoderma gangrenosum, Thrombocytopenia, Macular purpura	ORPHA:49566
Pyoderma Gangrenosum	Skin vesicle, Myeloid leukemia, Skin ulcer	ORPHA:48104
Adams-Oliver Syndrome 5	Hypoplastic toenails, Splenomegaly, Hypersplenism, Portal vein thrombosis, Right ventricular hype...	OMIM:616028
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Gomez-Lopez-Hernandez Syndrome	Alopecia, Decreased response to growth hormone stimulation test	OMIM:601853
Nodular Non-Suppurative Panniculitis	Splenomegaly, Erythema, Hepatomegaly	ORPHA:33577
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology	ORPHA:3453
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Ecchym...	OMIM:153670
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Alopecia totalis, Thrombocytopenia	OMIM:618775
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Pancreatitis	ORPHA:412057
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pul...	ORPHA:1655
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia	ORPHA:3163
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Pituitary adenoma, Primary hyperparathyroidism, Macronodular adrenal ...	ORPHA:189427
Roifman Syndrome	Splenomegaly, Lymphadenopathy	OMIM:616651
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy, Decreased testicular size, Anemia	OMIM:620040
Roifman Syndrome	Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Cirrhosis,...	ORPHA:77259
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Keutel Syndrome	Alopecia	ORPHA:85202
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Trichohepatoenteric Syndrome 1	Curly hair, Hepatomegaly, Brittle hair, Thrombocytosis, Increased mean platelet volume, Splenomeg...	OMIM:222470
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia	ORPHA:90153
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm...	OMIM:106260
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundi...	OMIM:603553
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis	OMIM:212750
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Erythema, Skin ulcer, Anemia,...	ORPHA:537
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Cryptorchidism, Patchy alopecia, Decreased testicular size	ORPHA:85279
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Small nail	ORPHA:166035
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Sparse p...	ORPHA:2232
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Thrombocytopenia, Fine hair, Cutis laxa, Leukopenia, Hemophagocytosis...	OMIM:222700
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym...	OMIM:617591
Trichotillomania	Alopecia	OMIM:613229
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Erythema, Onychogryposis, Palmoplantar keratoderma, Nail dystrophy, Anemia	ORPHA:79396
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Aplastic anemia, Sparse eyebrow, Neut...	ORPHA:2909
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Abnormal fingernail morphology, Abnormal hair pattern, Elev...	ORPHA:2796
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio, Splenomegaly, He...	OMIM:608233
Polyarteritis Nodosa	Erythema, Skin ulcer	ORPHA:767
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Acute myeloid leukemia, Sparse eyelashes, Pancytopenia, Thromb...	OMIM:305000
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Fusariosis	Abnormality of the spleen, Paronychia, Peritonitis, Skin ulcer, Abnormality of the liver, Neutrop...	ORPHA:228119
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Anemia	OMIM:608068
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp...	ORPHA:363618
Hajdu-Cheney Syndrome	Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior hairline, Ski...	ORPHA:955
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails	OMIM:245660
Livedoid Vasculopathy	Pancytopenia, Leukocytosis, Skin ulcer, Macular purpura, Ecchymosis, Polycythemia, Anemia	ORPHA:542643
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	OMIM:253270
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Severe B lymphocytopenia, Alopecia totalis, Decreased response to growth hormone stimul...	ORPHA:293978
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Ane Syndrome	Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, R...	ORPHA:157954
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Abnormal fingernail morphology	ORPHA:1647
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Anterior pituitary hypoplasia	ORPHA:453533
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Aplastic anemia, Alopecia totalis, Cryptorchidism, Facial erythema, Anemi...	ORPHA:221008
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,...	ORPHA:906
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Lymph node hypoplasia	OMIM:613179
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Aplastic anemia, Alopecia totalis, Cryptorchidism, Erythema, Facial eryth...	ORPHA:221016
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Erythema, Hyperkeratosis, Small nail, Orthokeratosis, Thyroid hypoplasia	OMIM:308050
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Adrenoleukodystrophy	Alopecia	OMIM:300100
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Immunodeficiency 91 And Hyperinflammation	Lymphadenopathy, Hepatosplenomegaly	OMIM:619644
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Chime Syndrome	Erythema, Skin ulcer, Acute leukemia, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:3474
Calciphylaxis	Skin ulcer, Secondary hyperparathyroidism	ORPHA:280062
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis, Splenomegaly, Neutrophilia, Hepatomegaly	OMIM:612852
Leigh Syndrome	Alopecia, Neutropenia, Frontal hirsutism, Hepatic failure, Anemia, Hypertrichosis	ORPHA:506
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424016
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Juvenile Dermatomyositis	Alopecia, Dry skin, Erythema, Skin ulcer	ORPHA:93672
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin	OMIM:614008
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea...	OMIM:602782
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina...	ORPHA:2108
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis, Decreased response to growth hormone stimulation test	OMIM:615577
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Skin ulcer, Polycystic ovaries	ORPHA:2176
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Lack of skin ela...	ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Onychogryposis, Hepatomegaly	OMIM:248370
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Skin ulcer, Hepatospleno...	ORPHA:2072
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Skin ulcer, Lymphadeno...	ORPHA:289390
Castleman Disease	Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy	ORPHA:160
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Enlarged polycystic ovaries, Thrombocytopenia, Biliary cirrhosis, Pol...	ORPHA:2298
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Blau Syndrome	Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Abnormality of the liver, Abnormal salivary ...	ORPHA:90340
Autosomal Dominant Hypocalcemia	Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:98850
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism	ORPHA:93160
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:536
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse hair	OMIM:613451
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Alopecia, Brittle hair, Pancreatic cysts, Abnormality of the pancr...	ORPHA:2750
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Scaling skin, Sparse hair, A...	ORPHA:158668
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Microscopic Polyangiitis	Peritonitis, Erythema, Pancreatitis, Skin ulcer	ORPHA:727
Familial Tumoral Calcinosis	Splenomegaly, Erythema, Hepatomegaly	ORPHA:53715
Felty Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:47612
Sarcoidosis	Hemolytic anemia, Alopecia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Thrombocy...	ORPHA:797
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca...	ORPHA:2526
Cinca Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:1451
Hereditary Acrokeratotic Poikiloderma	Erythema, Skin ulcer, Palmoplantar hyperkeratosis, Nail dystrophy, Dystrophic fingernails, Dystro...	ORPHA:2907
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Perianal erythema, Absent ...	OMIM:308205
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Digital ulcer, Acral ulceration	ORPHA:90291
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Cushing Disease	Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, L...	ORPHA:96253
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Bilateral crypto...	OMIM:263650
Xeroderma Pigmentosum	Alopecia, Cryptorchidism, Erythema, Hyperkeratosis, Dry skin, Decreased testicular size	ORPHA:910
Orofaciodigital Syndrome I	Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Sparse hair, Hepatic cysts	OMIM:311200
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphadenopathy	ORPHA:36412
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Acral ulceration, Nail dystrophy, Nail dysplasia	OMIM:256800
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati...	OMIM:207900
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Pallor, Anemia	ORPHA:667
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Alopecia universalis	OMIM:277440
Focal Dermal Hypoplasia	Acute hepatic failure, Alopecia, Erythema, Abnormality of the nail	ORPHA:2092
Legionnaires Disease	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:549
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Testicular adrenal rest tumor, Hirsutism, Polycystic ovaries	ORPHA:90795
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leuke...	ORPHA:3243
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Dermatomyositis	Abnormal hair quantity, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin, Abnormali...	ORPHA:221
Malakoplakia	Orchitis, Skin ulcer, Follicular hyperplasia	ORPHA:556
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Alopecia	OMIM:613001
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly	OMIM:618986
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Premature gray...	ORPHA:163746
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Colchicine Poisoning	Leukocytosis, Alopecia	ORPHA:31824
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Alopecia, Pancytopenia, Erythema, Skin ulcer, Onycholysis, Nail dy...	ORPHA:99921
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Classical-Like Ehlers-Danlos Syndrome Type 2	Cryptorchidism, Alopecia, Redundant skin	ORPHA:536532
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure...	OMIM:276700
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Striae distensae, Pancreatobla...	ORPHA:99889
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Skin ulcer, Enlarged mesenteric lymph node, Dry skin	ORPHA:707
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:610377
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220393
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries...	OMIM:608594
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:264090
Relapsing Polychondritis	Alopecia, Erythema, Hepatitis, Purpura	ORPHA:728
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Lymphadenopathy	OMIM:267700
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Acral ulceration	OMIM:201300
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Skin ulcer	OMIM:116920
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size	OMIM:619321
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Graft Versus Host Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Biotinidase Deficiency	Alopecia	ORPHA:79241
African Trypanosomiasis	Hepatomegaly, Alopecia, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal pro...	ORPHA:3385
Granulomatosis With Polyangiitis	Granulomatosis, Skin ulcer	OMIM:608710
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum	ORPHA:2612
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Hyperparathyroidism, Thrombocytopenia, Cryptorchidism, Skin ulcer, Fine hair, ...	ORPHA:534
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Parkes Weber Syndrome	Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology	ORPHA:90307
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cryptorchid...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cryptorchid...	ORPHA:363958
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Scaling skin, Decr...	ORPHA:3464
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Autosomal Recessive Robinow Syndrome	Cryptorchidism, Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Waldenström Macroglobulinemia	Splenomegaly, Lymphadenopathy	ORPHA:33226
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail, Anemia	ORPHA:79404
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Decreased testicular size, Fine hair	OMIM:241080
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Trichiasis, Acantholysis, Skin ulcer, Nail dystrophy, Neutropenia,...	ORPHA:95455
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Ridged fingernai...	ORPHA:3107
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, In...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, In...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, In...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, In...	ORPHA:881
Immunoglobulin A Vasculitis	Orchitis, Erythema, Skin ulcer, Purpura	ORPHA:761
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly	ORPHA:31150
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Skin ulcer	ORPHA:68
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Paronychi...	ORPHA:125
Poems Syndrome	Lymphadenopathy	ORPHA:2905
Behcet Syndrome	Erythema, Patchy alopecia	OMIM:109650
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Granulomatosis With Polyangiitis	Granulomatosis, Pancreatitis, Skin ulcer, Purpura	ORPHA:900
Simple Cryoglobulinemia	Viral hepatitis, Purpura, Acral ulceration, Chronic lymphatic leukemia	ORPHA:91139
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Alopecia, Decreased response to growth hormone stimulation test, E...	ORPHA:273
Q Fever	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:781
Multiple Myeloma	Splenomegaly, Lymphadenopathy	ORPHA:29073
Hennekam Syndrome	Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy	ORPHA:2136
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100086
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Impaired neutrophil chemotaxis, Leukocytosis, Recurrent tonsillitis, Peri...	ORPHA:2968
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair	ORPHA:2636
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ...	ORPHA:3261
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder	ORPHA:96176
Chédiak-Higashi Syndrome	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:167
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Lack of skin elasticity, Patchy alopecia, Pr...	ORPHA:740
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:32960
Coccidioidomycosis	Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:228123
Familial Mediterranean Fever	Splenomegaly, Lymphadenopathy	ORPHA:342
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Viss Syndrome	Sparse scalp hair, Alopecia, Hypereosinophilia, Cutis laxa, Hirsutism, Right ventricular hypertrophy	OMIM:619472
Vascular Ehlers-Danlos Syndrome	Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidis...	ORPHA:286
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Blau Syndrome	Skin ulcer	OMIM:186580
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Brucellosis	Hypersplenism, Splenomegaly, Lymphadenopathy	ORPHA:1304
Behçet Disease	Splenomegaly, Lymphadenopathy	ORPHA:117
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hypertrichosis	ORPHA:573278
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:619381
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:256040
Igg4-Related Kidney Disease	Lymphadenitis, Lymphadenopathy	ORPHA:449395
Igg4-Related Ophthalmic Disease	Lymphadenopathy	ORPHA:449563
Crimean-Congo Hemorrhagic Fever	Splenomegaly, Lymphadenopathy	ORPHA:99827
Marburg Hemorrhagic Fever	Lymphadenopathy	ORPHA:99826
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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.

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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
Ppp2r5a^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ppp2r5a^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ppp2r5a^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ppp2r5a MGI:2388479

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Ppp2r5a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data