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Gene: Stat5b MGI:103035

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
signal transducer and activator of transcription 5B
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Stat5b mutations

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

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

The table below shows human diseases associated to Stat5b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Thyroiditis, Delayed puberty OMIM:618985

The table below shows human diseases predicted to be associated to Stat5b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... OMIM:618261
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly OMIM:269840
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... OMIM:301082
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... ORPHA:276
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... ORPHA:171706
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Overgrowth, Red hair, Hepatic steatosis OMIM:620195
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Bardet-Biedl Syndrome 11
Hypogonadism, Abnormality of the kidney, Obesity OMIM:615988
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Small for gestational age, Decreased response to growth hormone st... OMIM:275400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... ORPHA:2722
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Failure ... ORPHA:2118
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thrive, Decreased tes... ORPHA:261483
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity, Thick eyebrow OMIM:309585
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... OMIM:608709
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... ORPHA:3363
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Obesity, Low posterior ha... ORPHA:2183
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
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
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Intellectual Developmental Disorder, X-Linked 97
Synophrys, Obesity OMIM:300803
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism, Cachexia ORPHA:2574
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, Obesity OMIM:615983
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Abnormality of the thyroid gland, Obesity, Decreased fert... ORPHA:2234
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility, Hepatic steatosis OMIM:615703
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Nail dystrophy, Spa... OMIM:618625
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a... OMIM:230350
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Obesity, Decreased fertility, Low posterior hairline, Hypogonadism, Abnor... ORPHA:2233
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel... OMIM:608233
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogon... OMIM:615993
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... OMIM:602114
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... OMIM:605911
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body h... ORPHA:1818
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for ges... OMIM:601820
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Galactosemia I
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:230400
Intellectual Developmental Disorder, X-Linked 91
Obesity, Low posterior hairline OMIM:300577
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperinsulinemia, Obesity ORPHA:329249
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... ORPHA:3055
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Uncombable hair, Cirrho... OMIM:614602
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age OMIM:240900
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... ORPHA:202
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... ORPHA:890
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contracture, Sparse hair,... OMIM:606242
Nephronophthisis 15
Elevated hepatic transaminase, Obesity, Nephronophthisis OMIM:614845
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... OMIM:616005
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, 3-Methylglutaconic aciduria ORPHA:67046
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Abnormal odontoid tissue morphology ORPHA:401911
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Obesity, T... ORPHA:2377
11P15.4 Microduplication Syndrome
Synophrys, Obesity, Highly arched eyebrow ORPHA:300305
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Increased he... ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... OMIM:615158
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia OMIM:617827
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Narcolepsy Type 1
Obesity ORPHA:2073
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Renal agenesis, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Increased... ORPHA:247768
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... OMIM:232700
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Jaundice, Decreased circulating... ORPHA:540
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... ORPHA:552
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Delayed p... OMIM:615704
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... ORPHA:2985
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatos... OMIM:603553
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue los... ORPHA:528
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,... ORPHA:275555
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality... ORPHA:1133
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair ORPHA:1174
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Failure to thrive in infancy OMIM:619175
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hepatic steatosis, Hydronephrosis OMIM:615996
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Decreased liver... ORPHA:570422
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow ORPHA:2429
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... OMIM:300148
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia, Polycystic ovaries, Hepatic steat... ORPHA:79084
Diarrhea 13
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis OMIM:620357
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Atrophic scars, Sparse hair, Distichiasis, Sparse latera... ORPHA:79133
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Thick hair, Splenomegaly, Elevated circulating alkal... OMIM:613489
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie... ORPHA:79237
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis, Fai... OMIM:613861
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Micropenis ORPHA:85282
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabe... OMIM:613404
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Alopecia, Renal insufficiency, Chronic active h... OMIM:203800
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Abnormal circulating insulin concentration, ... ORPHA:293964
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Cryptorchidism, Obesity, Sparse hair, Micropenis, Hydron... OMIM:619185
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Congenital generalized lipod... OMIM:608154
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Type I diabetes mellitus, Sparse hair, Anterior hypopituitarism, Sparse body hair, ... ORPHA:181
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis, Failure to thrive in infancy, Obesity OMIM:613670
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Ruijs-Aalfs Syndrome
Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Hypogonadism, Hepatocellular... OMIM:616200
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Abnorma... ORPHA:2963
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... OMIM:235200
Androgen Insensitivity Syndrome
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... OMIM:300068
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity, Cardiomegaly ORPHA:88643
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... OMIM:613313
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... ORPHA:79085
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernai... ORPHA:2251
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Hepatic fibrosis, Elevated gamma-glutamyltransferas... OMIM:278000
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Aredyld
Generalized hypotrichosis OMIM:207780
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Low urinary cyclic AMP ... OMIM:603233
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... OMIM:268020
Bardet-Biedl Syndrome 21
Overweight, Obesity, Horseshoe kidney, Elevated hepatic transaminase OMIM:617406
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... OMIM:619048
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulin... ORPHA:263455
Baralle-Macken Syndrome
Urinary incontinence, Hirsutism, Obesity OMIM:619255
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Atreti... ORPHA:30391
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Red hair, Fai... OMIM:614613
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Renal dysplasia, Obesity OMIM:615985
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Hyperhidrosis, Enamel hypoplasia, Cardiomegaly OMIM:613576
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Diabetes mellitus, Li... ORPHA:2348
Lessel-Kubisch Syndrome
Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism OMIM:618681
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hemolytic-uremic syn... OMIM:614727
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Synophrys, Horizontal eyebrow, Obesity ORPHA:352530
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Dysme... ORPHA:79083
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... ORPHA:2930
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... OMIM:605309
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr... OMIM:615630
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Micropenis, Obesity, Delayed puberty OMIM:301900
Chromosome 16P13.3 Deletion Syndrome, Proximal
Abnormality of the kidney, Obesity, Polysplenia, Facial hypertrichosis, Failure to thrive, Abnorm... OMIM:610543
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair OMIM:601453
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menst... OMIM:615238
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, L... OMIM:616026
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Sparse body hai... ORPHA:2850
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Hyperhidrosis, Weight loss ORPHA:86893
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Elevated gamma-glutamyltransferase level, Cirrhosis, Spa... OMIM:242150
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:235555
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus, Lipoatrophy ORPHA:2301
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Thick eyebrow ORPHA:3459
Summitt Syndrome
Obesity OMIM:272350
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... ORPHA:91
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Elevated circulating aspartate aminotransfera... ORPHA:2088
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Cholestatic liver disease, Acholic stools, ... ORPHA:65682
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Mpi-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... ORPHA:79319
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Male i... ORPHA:79239
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-o... ORPHA:324575
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Cryptorchidism, Prec... OMIM:616222
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry... OMIM:619064
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Primary hypothyroidism... ORPHA:300536
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Sparse hair, Sparse body hair OMIM:618535
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Enamel hypoplasia, Anonychia, Sparse ... ORPHA:79402
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Truncal obesity, Long ey... OMIM:300882
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabete... ORPHA:276575
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... ORPHA:261222
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen concentration, Micropenis... ORPHA:90796
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Synophrys, Obesity, Long eyelashes, Lipoma, Thick eyebrow ORPHA:480907
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... OMIM:602400
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:608594
Complete Androgen Insensitivity Syndrome
Male infertility, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bilateral... ORPHA:99429
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Rafiq Syndrome
Long eyebrows, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Obesity, Truncal obesi... OMIM:614202
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt... ORPHA:261529
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... ORPHA:508533
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive ORPHA:172
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Trisomy 5P
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia ORPHA:1742
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Filippi Syndrome
Cryptorchidism, Decreased body weight, Sparse hair, Frontal hirsutism, Hypertrichosis OMIM:272440
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Abdominal obesity, Lipodystrophy, Hepatic steatosis OMIM:615980
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity, Highly arched eyebrow ORPHA:261229
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati... ORPHA:79303
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:444002
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy ORPHA:100024
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
Chung-Jansen Syndrome
Cryptorchidism, Synophrys, Obesity, Thick eyebrow OMIM:617991
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Synophrys, Achilles tendon contracture, Sparse hair, Increased circula... OMIM:611091
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased body weight, I... OMIM:615830
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Hyperin... ORPHA:363400
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys... OMIM:604536
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... ORPHA:2890
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Hypohidrosis ORPHA:1810
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Dermoodontodysplasia
Sparse scalp hair, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse... ORPHA:1660
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Multiple li... ORPHA:1414
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Co... ORPHA:94065
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Alopecia, Brittle hair, Hepatomegaly ORPHA:50812
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Nephrotic syndrome, Ascites, Failure to thrive OMIM:269920
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:269700
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal panc... ORPHA:2849
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Flexion contracture, Obesity, Hypogonadism, Camptod... OMIM:615547
Morm Syndrome
Truncal obesity, Micropenis, Abnormality of the kidney ORPHA:75858
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Fucosidosis
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Hyperhidrosis, Mucopolys... ORPHA:349
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce... OMIM:616433
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Hypogonadism, Sparse hair, Failure to t... ORPHA:2316
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Adiposis Dolorosa
Sparse axillary hair, Sparse pubic hair, Xerostomia, Obesity, Hypothyroidism ORPHA:36397
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Biliary tract abnormality, Obesity ORPHA:3191
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cryptorchidism, Camptodactyly of toe, Truncal obesity, Hypogonadism, Sparse ... ORPHA:127
48,Xxyy Syndrome
Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria, Sparse hair, Fail... OMIM:140350
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Long eye... ORPHA:3051
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemic hypoglycemia, E... ORPHA:276556
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Alopecia, Ascites ORPHA:100025
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Nephrolithiasis, Obesity, Increased circulating ACTH level, Abdominal obesity,... OMIM:219090
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism, Umbilical hernia OMIM:273390
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:276608
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Sparse hair... ORPHA:284180
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Renal a... ORPHA:478
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Alopecia, Streak ovary, Spar... ORPHA:2232
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Hepatomegaly, Anhidrosis, Splenomegaly, Hypohidrosis, Aplasia of the sweat gla... OMIM:612132
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Cryptorchidism, Renal hypoplasia, Fine hair, Delayed puberty, Sparse h... OMIM:616817
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Premature graying of hair, Increased intraabdominal fat, Hepatic steatosis, Abnorma... ORPHA:280365
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Paronychia, Low alkaline phosphatase, Alopecia of scalp, Hypogonadism... OMIM:201100
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity ORPHA:369873
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating... OMIM:601847
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Synophrys, Hypothyroidism, Obesity, Arthrogrypos... ORPHA:254346
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Obesity ORPHA:411515
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coars... OMIM:252900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Synophrys, Low anterior hair... ORPHA:391408
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ... OMIM:300953
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsuline... ORPHA:79086
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Sparse scalp hair, Diabetes mellitus, Lipodystrophy, Highly ... OMIM:270450
Bazex-Dupre-Christol Syndrome
Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Ele... OMIM:227810
Trichohepatoenteric Syndrome 1
Curly hair, Hepatomegaly, Brittle hair, Hypospadias, Small for gestational age, Abnormality of th... OMIM:222470
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension OMIM:617068
Fg Syndrome 3
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Absence of subcutane... OMIM:601675
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Abnormality of the... ORPHA:3253
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Abnormality of the ureter, Obesity,... ORPHA:3409
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, High anterior hairline, Hirsutism OMIM:616831
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Micronodular cirrhosis, Obesity, Hepatic s... ORPHA:98907
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Abnormal hair w... ORPHA:2872
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Failure to thrive ORPHA:28
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Umbilical hernia, Micropenis ORPHA:171839
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyp... OMIM:602579
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormality of the upper urinary tract, Abnormal h... ORPHA:1807
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Premature ovarian insufficiency, Camptodactyly of finger ORPHA:2928
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Frontal balding, Early balding, Truncal obesity, Hypogonadis... ORPHA:3041
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Small for gestational age, Cryptorchidism, Splenomegaly, Low anteri... OMIM:618440
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Organic aciduria, Long eyelashes, Obesity OMIM:620191
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta... OMIM:604273
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... ORPHA:90362
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Hepa... ORPHA:75233
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Scarf Syndrome
Inguinal hernia, Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Perineal hypospa... ORPHA:3134
Microtriplication 11Q24.1
Synophrys, Long eyelashes, Obesity, Thick eyebrow ORPHA:289522
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Abnormal hair pattern, Cachexia, S... ORPHA:85293
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Decreased fertility, N... OMIM:234050
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse h... OMIM:252920
19Q13.11 Microdeletion Syndrome
Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or absent eyelashe... ORPHA:217346
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Bardet-Biedl Syndrome 9
Truncal obesity, Renal insufficiency, Irregular menstruation, Obesity OMIM:615986
Ulnar-Mammary Syndrome
Hypoplasia of penis, Abnormal fingernail morphology, Camptodactyly of finger, Hypoplastic toenail... ORPHA:3138
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Obesity OMIM:615633
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... OMIM:170100
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Thyroiditis, Nephrotic syndrome, Failure to thrive, Hypothy... ORPHA:39041
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Spastic Paraplegia 11, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Obesity OMIM:604360
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Gand Syndrome
Sparse hair OMIM:615074
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:363741
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Abnormal salivary gland morphology, Nephritis, A... ORPHA:2298
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Failure to thrive, Elevated hepa... ORPHA:2394
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hernia, H... OMIM:252930
Wagr Syndrome
Displacement of the urethral meatus, Obesity, Cryptorchidism ORPHA:893
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... ORPHA:251393
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Organic aciduria ORPHA:35
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:619737
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Ren... ORPHA:85450
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Obesity, Renal hypoplasia, Pseudohypoparathy... ORPHA:464288
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Bardet-Biedl Syndrome 1
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Biliary tract abnor... OMIM:209900
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Hematuria, Abnormality of the bladder, Sparse hair ORPHA:1839
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Micropenis, Small for gestational age, Camptodactyly of finger OMIM:610756
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Tetrasomy 12P
Sparse hair, Cachexia, Sparse eyebrow, Hypohidrosis ORPHA:884
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol... ORPHA:251004
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm ORPHA:50944
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Type II ... OMIM:616860
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impotence, Cirrhosis, Hepatic steatosis OMIM:606069
Rapp-Hodgkin Syndrome
Sparse eyelashes, Hypospadias, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... OMIM:129400
Sialuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Hypoplastic nippl... OMIM:269921
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
6Q16 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:171829
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Failure to thrive, Elevated circulating aspartate aminotran... OMIM:207900
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Cryptorchidism, Cholestasis, Decreased liver function, Camptodac... OMIM:608104
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter, Obesity ORPHA:1035
Lysinuric Protein Intolerance
Hepatomegaly, Failure to thrive, Splenomegaly, Stage 5 chronic kidney disease, Fine hair, Truncal... OMIM:222700
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Even-Plus Syndrome
Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Renal hypoplasia, Sparse ha... OMIM:616854
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Generalized hirsutism, Hernia ORPHA:93476
Down Syndrome
Renal hypoplasia/aplasia, Obesity, Decreased fertility, Type II diabetes mellitus, Sparse hair, U... ORPHA:870
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome, Ascites ORPHA:834
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Urinary incontinence, Obesity ORPHA:464282
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Neonatal... ORPHA:1667
Chromosome 3Q29 Duplication Syndrome
Obesity, Low posterior hairline OMIM:611936
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Synophrys OMIM:613192
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Immunodeficiency 7
Splenomegaly, Hepatomegaly, Failure to thrive, Patchy alopecia OMIM:615387
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Synophrys, Low anterior ... OMIM:619312
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Laron Syndrome
Hypoplasia of penis, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed ... ORPHA:633
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism,... OMIM:619471
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... ORPHA:79644
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th finger, Sparse hair ORPHA:1883
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, Obesity, Renal cyst OMIM:605231
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Flexion contracture, Small nail OMIM:617396
Short Syndrome
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Diabetes mellitus, W... ORPHA:3163
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... ORPHA:231222
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long eyelashes, Obesity, Tall stature OMIM:618089
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Renal steatosis, Obesity, He... ORPHA:412
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... ORPHA:3044
Adams-Oliver Syndrome
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Ascites... ORPHA:974
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypohidrosis, Nail dystrophy, Sparse hair, Hypopituitarism, Failure to thrive ORPHA:98813
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Olmsted Syndrome 1
Subungual hyperkeratosis, Flexion contracture, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Spa... OMIM:614594
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Failure to thrive, Flexion contracture OMIM:620001
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity, Thick eyebrow ORPHA:85325
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Cholestasis... OMIM:614576
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ... OMIM:618892
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Immunodeficiency 61
Obesity OMIM:300310
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Hepatosple... ORPHA:367
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Jaundice, Biliary tract abnormality, Abnormality of the liver ORPHA:234
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Low anterior hairline, Low posterior hairline, Truncal obesity, Hypogo... ORPHA:73272
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Decreased response to growth hormone stim... OMIM:176270
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Decreased beta-glucocerebrosidase level, Decreased body weight OMIM:231000
Chops Syndrome
Curly hair, Thick hair, Cryptorchidism, Synophrys, Splenomegaly, Obesity, Horseshoe kidney, Coars... OMIM:616368
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity, Highly arched eyebrow OMIM:600430
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirrhosis, Hepatos... OMIM:606003
Insulinoma
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Fasting hyperinsulinemia,... ORPHA:97279
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
2Q37 Microdeletion Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Supernumerary nipple, Highly arched eyebrow, Spa... ORPHA:1001
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency OMIM:618752
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Diabetes mellitus,... ORPHA:1775
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Obesity OMIM:618821
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... ORPHA:100085
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, ... ORPHA:96253
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Failure to thrive, Femoral hernia, Highly arched eyebro... ORPHA:96147
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni... OMIM:614034
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Hypohidrosis, Nail dystrophy, Sparse hair, Abnormal toenail... ORPHA:140936
48,Xxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Cryptor... ORPHA:96263
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased... OMIM:300755
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Failure to thrive, Nail dystrophy OMIM:616353
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, Micropenis, Decrea... OMIM:300354
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Recurrent urinary tract infections, Renal insufficie... OMIM:619487
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Hypohidrosis, Nail dystrophy, Sparse hair ORPHA:100976
Carpenter Syndrome
Cryptorchidism, Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Ascites, Sparse ... ORPHA:69735
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chr... OMIM:614376
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Smith-Magenis Syndrome
Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty, Synophrys, Abnormalit... ORPHA:819
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:242300
Xylt1-Cdg
Truncal obesity, Synophrys, Hirsutism, Hepatomegaly ORPHA:370930
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Clark-Baraitser Syndrome
Obesity OMIM:617752
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97278
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Obesity, Fine hair, Overgrowth, Long eyelashes OMIM:620250
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, Failure ... OMIM:617883
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... ORPHA:3157
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphallus OMIM:300957
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Abnormal dental enamel ... ORPHA:1515
Monosomy 13Q34
Metrorrhagia, Fetal pyelectasis, Obesity, Horizontal eyebrow, Hepatic steatosis ORPHA:96168
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Renal insufficiency, Overweight, Obesity, Abnormality of the nail ORPHA:247353
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contrac... ORPHA:398069
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Splenomegaly, Jaundice, Failure to thrive, Exocrine pancreatic insufficiency OMIM:612714
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Obesity,... ORPHA:813
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Obesity, Macroorchidism, Male hypogonadism, Wrist flexion contracture OMIM:300055
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Polycystic kidney dysplas... OMIM:614091
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Hypospadias, Sparse eyebr... OMIM:613026
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Hypospadias, Small for gestational age, Failure to thrive in infancy, Flexion contr... OMIM:618891
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis OMIM:615994
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom... ORPHA:381
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Decreased serum insulin-like growth factor ... OMIM:241080
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm, T... ORPHA:404443
Laurence-Moon Syndrome
Micropenis, Obesity OMIM:245800
2Q32Q33 Microdeletion Syndrome
Sparse hair, Decreased testicular size, Fine hair ORPHA:251019
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Retinitis Pigmentosa 51
Abnormality of the kidney, Obesity OMIM:613464
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Re... OMIM:616541
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundic... ORPHA:525731
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure to thrive ORPHA:412035
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... ORPHA:739
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Failure to thrive, Overgrowth, Hyperconvex nail OMIM:619721
Macs Syndrome
Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Urethral stenosis, Decr... OMIM:613075
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Reduced carnitine O-palmitoyltransf... ORPHA:228305
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Desbuquois Syndrome
Sparse hair, Camptodactyly of finger, Abnormal eyelash morphology ORPHA:1425
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Fragile nails, Hepatic ... ORPHA:79474
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Chromosome 5P13 Duplication Syndrome
Vesicoureteral reflux, Small for gestational age, Sparse hair, Low posterior hairline OMIM:613174
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splen... OMIM:607015
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe... ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Hypospadias, Small for gestational age OMIM:618253
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, Hy... OMIM:613327
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cryptorchidism, Sparse hair, Umbilical hernia, Failure to thrive OMIM:219150
Man1B1-Cdg
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes ORPHA:397941
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circula... ORPHA:330001
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat... OMIM:261680
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Supernumerary nippl... ORPHA:261494
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Synophrys, Obesity, Thick eyebrow OMIM:618443
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Obesity, Pi... ORPHA:98908
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, I... ORPHA:1454
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Hi... OMIM:216400
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce... OMIM:605479
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... OMIM:219800
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair OMIM:224900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... ORPHA:97287
Glycogen Storage Disease Xii
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Jaundice, ... OMIM:611881
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas... OMIM:251290
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Premature graying of hair ORPHA:79477
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... ORPHA:100080
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... OMIM:201450
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Proteinuria, Microscopic hematuria, Cachexia, Splenomegaly, Flexion... ORPHA:77297
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive OMIM:617988
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis OMIM:615989
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... ORPHA:96149
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormality of the menstrual cycle, Hematuria, Cellulitis, Ascites, Tall stature ORPHA:90308
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Hepatitis, Hypoplasia of the thymus, Nail dystrophy, Type I diabetes... ORPHA:436252
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome... OMIM:276700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... OMIM:610199
Incontinentia Pigmenti
Ridged nail, Alopecia, Scarring, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast ... OMIM:308300
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Hyper... OMIM:257980
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Incr... OMIM:600649
Braddock-Carey Syndrome 1
Curly hair, Multicystic kidney dysplasia, Camptodactyly, Sparse hair, Enamel hypoplasia OMIM:619980
Noonan Syndrome 6
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair OMIM:613224
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... ORPHA:83469
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... ORPHA:1333
Pde4D Haploinsufficiency Syndrome
Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Elevated circulating par... ORPHA:439822
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosi... ORPHA:99413
Mosaic Monosomy X
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosi... ORPHA:99228
Monosomy X
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosi... ORPHA:99226
Turner Syndrome
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosi... ORPHA:881
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Papillary renal cell ca... ORPHA:363618
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Hepatomegaly, Lipodyst... OMIM:248370
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Cryptorchidism, Urolithiasis, Hyperu... OMIM:300661
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micropenis, Ovarian gonadoblast... ORPHA:251510
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, H... ORPHA:116
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline phosphata... ORPHA:171
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Sm... OMIM:133540
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... OMIM:613095
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Wilson Disease
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Elevat... OMIM:277900
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, He... ORPHA:91138
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Amelogenesis imperfecta, Nail dystrophy, Hernia, Hyperechog... OMIM:617052
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Hepatoblastoma, ... ORPHA:84064
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Carpenter Syndrome 1
Omphalocele, Hydroureter, Precocious puberty, Cryptorchidism, Obesity, Polysplenia, Camptodactyly... OMIM:201000
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amino... OMIM:280000
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelashes, Red urine, Cor... OMIM:263700
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... OMIM:230740
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism... OMIM:614231
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Hypothyroidism OMIM:617763
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Small for gestational age, Oligozoospermia, Small nail, Nail dysplasia, Sparse... OMIM:614813
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Slow-growing hair, Short nail, Malformation of the hepatic ductal ... OMIM:218330
Olmsted Syndrome 2
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis OMIM:619208
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Precocious puberty, Cryptorchidism, Synophrys, Hirsu... OMIM:615485
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Nail dystrophy, Abnormality... ORPHA:678
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Abno... OMIM:216360
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Decreased iduronate sulfatase level, Heparan sulfate excretion in ... OMIM:309900
Momo Syndrome
Hyperconvex nail, Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowt... ORPHA:2563
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat... OMIM:614921
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair ORPHA:659
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Absence of ... OMIM:620005
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin... OMIM:137920
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... OMIM:268400
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th... ORPHA:480520
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Disproportionate tall stature, Hypoplasia of penis, Hypogonadotropic hypogonadism, Sparse body hair ORPHA:3068
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy... ORPHA:85443
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Premature ovarian insufficiency, Proteinuria, Hyperg... OMIM:212065
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Pancreatitis, Enuresis, Hepatic fibrosis, Hepatocell... ORPHA:247585
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Urete... OMIM:129900
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Cryptorchidism, Low anteri... ORPHA:193
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Hepatomegaly, Obesity ORPHA:163681
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Supernumerary nipple, Hyperconvex nail, Absent eyelashes, Patchy a... OMIM:106260
Lamellar Ichthyosis
Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Scarf Syndrome
Inguinal hernia, Cryptorchidism, Low anterior hairline, Perineal hypospadias, Low posterior hairl... OMIM:312830
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Obesity ORPHA:411511
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... OMIM:608779
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis ORPHA:848
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Kleefstra Syndrome 1
Hypospadias, Cryptorchidism, Synophrys, Abnormal renal morphology, Obesity, Micropenis OMIM:610253
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma... ORPHA:2036
45,X/46,Xy Mixed Gonadal Dysgenesis
Bilateral cryptorchidism, Epispadias, Micropenis, Hypothyroidism, Ovarian serous cystadenoma, Pen... ORPHA:1772
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e... OMIM:305100
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Hype... OMIM:557000
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss ORPHA:33577
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Diabetes mellitus, Small for gestational ag... ORPHA:125
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Precocious puberty, Synophrys, Obesity, Hepatosplenomegaly, Umbilical hernia, Chole... OMIM:301066
Acute Adrenal Insufficiency
Renal insufficiency, Decreased circulating cortisol level, Decreased female libido, Sparse axilla... ORPHA:95409
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Achilles tendon contracture, Obesity OMIM:615418
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... ORPHA:2495
Cranioectodermal Dysplasia 3
Short nail, Stage 5 chronic kidney disease, Broad nail, Fine hair, Nephronophthisis, Cirrhosis, S... OMIM:614099
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, Pa... OMIM:617591
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiecta... OMIM:235255
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Hepatic necrosis, Nail pits, Premature graying of hair, Nail dystrophy, Ci... OMIM:127550
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... ORPHA:85138
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Hypoplasia of the thymus, Failure to thrive OMIM:603554
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis, Obesity, Decreased body weight ORPHA:589821
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... ORPHA:100082
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... ORPHA:357074
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Cachexia, R... ORPHA:275761
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... OMIM:229600
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98855
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Trichohepatoneurodevelopmental Syndrome
Curly hair, Hepatomegaly, Woolly hair, Synophrys, Splenomegaly, Coarse hair, Distal arthrogryposi... OMIM:618268
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:614887
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
White-Sutton Syndrome
Duplicated collecting system, Congenital diaphragmatic hernia, Obesity, Sparse hair, Failure to t... OMIM:616364
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Failure to thrive, Reduced circulating growth hormone concentration OMIM:615508
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Overweight, Widow's peak, Obesity, Decreased body weight, Ena... OMIM:619229
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidase activity, Fa... OMIM:231670
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic steatosis, ... OMIM:617156
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hyperinsulinemia... ORPHA:508
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98853
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Hypohidrosis, Sparse hair, Abnormal toenail morphology ORPHA:1005
Monosomy 22
Aplasia of the thymus, Synophrys, Hepatosplenomegaly, Hyperhidrosis, Contractures of the large jo... ORPHA:96123
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Hypogonadism, Elevated hepatic iron concentration OMIM:615234
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Curly hair, Sparse scalp hair, Inguinal hernia, Large for gestation... OMIM:607721
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Shox-Related Short Stature
Obesity ORPHA:314795
Cohen Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Delayed puberty... OMIM:216550
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hypernatriuria, Increased... ORPHA:90041
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Nail dy... OMIM:615895
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nipple, Hyperconvex nail, Spar... ORPHA:1071
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ACTH level, Weight loss, Atypi... ORPHA:100075
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morpho... ORPHA:1655
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Elevated circulat... ORPHA:97280
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Hypohidrosis, Abnormal fingernail morphology, Fine hair ORPHA:1806
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Long eyelashes, Broad lateral eyebrow, Obesity OMIM:608624
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... OMIM:606721
Agel Amyloidosis
Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Abnormal spleen morphology, Nail dystrop... ORPHA:85448
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Brittle hair, Increased iduronate sulfatase level, Cardiomegaly, S... OMIM:252500
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... OMIM:115150
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis OMIM:194380
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema, Sparse hair, Failure to thrive OMIM:615934
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Abnormal eyelash morphology, Crypt... ORPHA:1340
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Delayed puber... OMIM:232200
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, High... ORPHA:2322
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow OMIM:620072
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Wagro Syndrome
Nephroblastoma, Proteinuria, Decreased testicular size, Obesity OMIM:612469
Rabin-Pappas Syndrome
Failure to thrive in infancy, Overgrowth, Obesity, Highly arched eyebrow OMIM:620155
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Obesity ORPHA:98794
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Brittle hair, P... ORPHA:2750
Angelman Syndrome
Fair hair, Obesity OMIM:105830
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture of finger, Lipodystrophy, Campto... OMIM:256040
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... OMIM:608156
Angelman Syndrome
Delayed menarche, Fair hair, Precocious puberty in females, Obesity ORPHA:72
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive, Hydronephrosis OMIM:302960
Mucoepithelial Dysplasia, Hereditary
Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial n... OMIM:158310
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cardiomegaly, Elevated circu... ORPHA:308552
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Micr... OMIM:619321
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr... OMIM:613451
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Obesity, Vesicouret... OMIM:618653
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Momo Syndrome
Overgrowth, Obesity, Hyperconvex nail OMIM:157980
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Sparse eyebrow, Flexion contracture, Ge... OMIM:619127
Hamamy Syndrome
Hypoparathyroidism, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low poster... OMIM:611174
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypersplenism,... ORPHA:231214
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss ORPHA:251071
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Lipoatrophy, Elevated circulating thyroid-stimulating hormone conc... OMIM:601812
White-Kernohan Syndrome
Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Long eyelashes, Horizont... OMIM:619426
Biotinidase Deficiency
Hepatomegaly, Alopecia, Splenomegaly, Organic aciduria, Decreased circulating biotinidase concent... OMIM:253260
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... OMIM:603903
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperhidrosis, Sparse hair OMIM:619745
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Small for gestational age, Alopecia totalis, Abnormal dental ena... ORPHA:221008
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Lo... ORPHA:369837
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Proteinuria, Hypothyroidism,... ORPHA:79259
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, ... ORPHA:444072
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Inguinal hernia, Sparse eyelash... OMIM:613610
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism, Decreased response t... OMIM:602782
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Renal hy... OMIM:181270
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Hydronephrosis, Type I diabetes mellitus, Moderate albuminuria, Dent... OMIM:619269
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis OMIM:619183
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... OMIM:619525
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, El... OMIM:251100
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... ORPHA:470
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Cryptorchidism, Splenomegaly, Fine hair, Low posterior hairline, Hepatospl... OMIM:613563
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Scarring, Hypohidrosis, Nail dystrophy, Sparse hair, Failure to thrive, Alope... ORPHA:158668
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina... ORPHA:2108
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Atrophic scars, Joint contracture, Decreased body weight OMIM:615349
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Overgrow... OMIM:277590
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Highly arched eye... ORPHA:444077
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Hypospadias, Precocious puberty, Truncal obesity, Type II diabetes mellitus, E... OMIM:210720
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Fai... OMIM:251110
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Spars... OMIM:614438
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity, Enuresis nocturna OMIM:619680
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptod... ORPHA:1606
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Hypohidrosis, ... ORPHA:163746
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... OMIM:619418
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Synophrys, Hirsutism, Obesity, Truncal obesity, Pelvic kidney, Dilatation of renal calices, Thick... ORPHA:466950
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair OMIM:257850
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Renal cyst, Horseshoe kidney, Small nail, Sparse hair, High ant... OMIM:250410
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow OMIM:212066
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... OMIM:615415
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Hypothyroidism, Small for gestational age, Decreased response to growth hormone stim... OMIM:614114
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Synophrys, S... ORPHA:529962
7Q11.23 Microduplication Syndrome
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Congenital diaphragmatic hernia, Cryptor... ORPHA:96121
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Dys... OMIM:150400
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Small for gestational age, Reduced level of N-acetylglucosaminyltransferase II, Spl... OMIM:224120
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Small for gestational age, Abnormal dental enamel morphology,... ORPHA:2909
Orofaciodigital Syndrome I
Alopecia, Dry hair, Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kid... OMIM:311200
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Obesity ORPHA:86816
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Knee flexion contracture, Hypohidro... ORPHA:477
Desbuquois Dysplasia 1
Obesity OMIM:251450
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, ... OMIM:619991
Oculodentodigital Dysplasia
Curly hair, Neurogenic bladder, Brittle hair, Slow-growing hair, Abnormal dental enamel morpholog... ORPHA:2710
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Increased circulating l... OMIM:613673
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa... OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Inguinal hernia, Hypospadias, Hydronephrosis OMIM:616449
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Chol... OMIM:266200
Menkes Disease
Hypopigmentation of hair, Inguinal hernia, Atypical scarring of skin, Bladder diverticulum, Umbil... ORPHA:565
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Inguinal hernia, Cryptorchidism, ... OMIM:601358
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Ketonuria, Failure to th... ORPHA:247598
Hellp Syndrome
Elevated hepatic transaminase, Proteinuria, Increased body weight, Hemoglobinuria, Increased circ... ORPHA:244242
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormali... ORPHA:177907
De Barsy Syndrome
Inguinal hernia, Lipodystrophy, Cryptorchidism, Sparse hair, Umbilical hernia, Failure to thrive ORPHA:2962
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Thin nail, Urinary retention, Sparse hair OMIM:617799
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Sparse axillary hair... OMIM:181450
Cartilage-Hair Hypoplasia
Hepatomegaly, Sparse eyebrow, Abnormality of the pancreas, Mucopolysacchariduria, Sparse hair, Fa... ORPHA:175
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Synophrys, Obesity, Hirsutism OMIM:616078
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... OMIM:272950
Johanson-Blizzard Syndrome
Fair hair, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Micropenis, Hypothyroidism... OMIM:243800
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Sparse hair, Vesico... ORPHA:3455
Marshall Syndrome
Sparse hair, Sparse eyelashes, Sparse eyebrow, Hypohidrosis ORPHA:560
Digeorge Syndrome
Renal insufficiency, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Unilateral renal agen... OMIM:188400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... ORPHA:293987
Adnp Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Inguinal hernia, Urinary incontinence, Cry... ORPHA:404448
Williams-Beuren Syndrome
Flexion contracture, Nephrocalcinosis, Premature graying of hair, Early onset of sexual maturatio... OMIM:194050
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contra... OMIM:151050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Absent eyebrow, Alopecia, Abnormal... ORPHA:2273
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Obesity, Enuresis, Failure to thrive, Thick eyebrow ORPHA:369950
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Hypospadias, Cryptorchidism, Fine hair, Frontal ups... OMIM:305450
Citrullinemia, Classic
Hepatomegaly, Failure to thrive, Oroticaciduria, Cirrhosis OMIM:215700
Argininemia
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Portal fibrosis, Oroticaciduria OMIM:207800
Naxos Disease
Curly hair, Subungual hyperkeratosis, Cardiomegaly, Sparse eyebrow, Onycholysis, Nail dystrophy, ... OMIM:601214
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Cryptorchidism, F... OMIM:234100
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Episodic hyperhidr... ORPHA:469
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,... ORPHA:920
Marshall-Smith Syndrome
Omphalocele, Tall stature, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptor... OMIM:602535
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Thick eyebrow, Hypospadias, Overweight, Abnormal abdomen morpholog... OMIM:619475
Monosomy 22Q13.3
Hypoplastic toenails, Obesity, Hypohidrosis, Hydronephrosis, Long eyelashes, Vesicoureteral reflu... ORPHA:48652
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidis... OMIM:130650
White-Sutton Syndrome
Duplicated collecting system, Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia, O... ORPHA:468678
Glass Syndrome
Inguinal hernia, Long eyelashes, Nail dysplasia, Camptodactyly, Sparse hair OMIM:612313
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Fine hair, Sparse hair, Micropenis, Decreased testicular size ORPHA:251028
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus OMIM:615812
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Hypohidr... ORPHA:548
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis,... OMIM:219700
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Hepati... OMIM:180849
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... OMIM:620186
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Joint contracture of the 5th finger, Hepatic steatosis, Urinary incontinence OMIM:619934
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... OMIM:615873
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hip contracture, Coarse hair, Knee flexion contracture OMIM:118650
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Hypospadias, Abnormal dental enamel morphol... ORPHA:567
Achondroplasia
Obesity ORPHA:15
Oculodentodigital Dysplasia
Neurogenic bladder, Dry hair, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, ... OMIM:164200
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Pseudohypoparathyroidism, Renal hypoplasia, Obesity, Sparse h... OMIM:617157
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Myhre Syndrome
Small for gestational age, Cryptorchidism, Obesity, Fine hair, Camptodactyly, Sparse hair, Thick ... OMIM:139210
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Curly eyelas... ORPHA:199
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hematuria, Focal segmental ... OMIM:232240
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Hypoplastic toenails, Abnormal tubulointerstitial morphology, ... ORPHA:904
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Synophrys, Sparse hair, Vesicoureteral reflux, Thick eyebrow OMIM:609460
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Alopecia totalis, Abnormal dental enamel morphology, Cryptorchidism, S... ORPHA:221016
Desbuquois Dysplasia 2
Truncal obesity, Synophrys OMIM:615777
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Failure to thrive, Sparse eyebrow OMIM:244450
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Synophrys, Pelvic kidney, Obesity ORPHA:466943
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Hiatus hernia, Precocious puberty, Cryptorchidism, Nail dysplasia, Sparse hair OMIM:616682
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Sarcoidosis
Hepatomegaly, Renal insufficiency, Alopecia, Hyperthyroidism, Scarring, Portal hypertension, Diab... ORPHA:797
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Knee flexion contracture, Hyperhidrosis, Camptodactyly, Sparse hair, C... OMIM:601559
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity, Abnormality of the nail OMIM:250420
Neurocardiofaciodigital Syndrome
Small for gestational age, Sparse eyebrow, Sparse hair, Vesicoureteral reflux, Failure to thrive OMIM:619869
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Retinitis Pigmentosa 74
Abnormal renal morphology, Obesity OMIM:616562
African Trypanosomiasis
Hepatomegaly, Alopecia, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual c... ORPHA:3385
6Q Terminal Deletion Syndrome
Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Obesity, Failure to thrive ORPHA:75857
Carpenter Syndrome 2
Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Sparse eyebrow, Cryptorchi... OMIM:614976
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, ... OMIM:619841
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Absent fingerna... OMIM:305600
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism OMIM:300966
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Hypospadias, Decreased response to growth hormone... OMIM:613406
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair OMIM:607812
Costello Syndrome
Deep-set nails, Curly hair, Renal insufficiency, Thin nail, Concave nail, Achilles tendon contrac... OMIM:218040
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptor... ORPHA:2636
Chime Syndrome
Abnormality of the kidney, Fine hair, Sparse hair, Hydronephrosis, Tall stature ORPHA:3474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Pilomatrixoma, Nephrolithiasis, ... ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Primrose Syndrome
Sparse scalp hair, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent fac... OMIM:259050
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Hypoplastic nipples, Camptodactyly... OMIM:200110
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Highly arched eyebrow... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Highly arched eyebrow... ORPHA:353277
Roberts Syndrome
Progressive flexion contractures, Cryptorchidism, Long penis, Knee flexion contracture, Polycysti... ORPHA:3103
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Camptodactyly of finger, Ectopic kidney, Cryptorchidism, Synophrys, Obesity, Congeni... OMIM:607872
Restrictive Dermopathy
Ureteral duplication, Multiple joint contractures, Hypospadias, Short nail, Camptodactyly of fing... ORPHA:1662
Renpenning Syndrome 1
Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Camptodactyly, Sparse hair, Joint contract... OMIM:309500
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Elbow flexion contracture, Ren... OMIM:113620
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Inguinal hernia, Bilateral cryptorchidism, Hyperhidrosis, Hypohidrosis, Fragil... OMIM:150230
Wrinkly Skin Syndrome
Inguinal hernia, Lipodystrophy, Cryptorchidism, Sparse hair, Umbilical hernia, Failure to thrive ORPHA:2834
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Camptodactyly of 2nd-5th finger... OMIM:601803
Wrinkly Skin Syndrome
Inguinal hernia, Short nail, Cryptorchidism, Sparse hair, Umbilical hernia, Failure to thrive, Fr... OMIM:278250
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal balding, Highly arched eyebrow, Synophrys, Truncal obesity, Long lower eyelashes, Camptod... OMIM:612474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Hypogonadism, Vesicoureteral reflux, Micr... OMIM:309580
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Ankle flexion contracture, Cryptorchidism, Long penis, Biliary tra... OMIM:268300
Menke-Hennekam Syndrome 1
Inguinal hernia, Cryptorchidism, Flexion contracture, Long eyelashes, Sparse hair, Umbilical hern... OMIM:618332
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Thyroiditis, Delayed puberty OMIM:618985

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 Stat5b

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 Stat5b.

No publications found that use IMPC mice or data for Stat5b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Stat5btm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Stat5btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stat5btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Stat5btm85(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Stat5btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Stat5btm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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