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Gene: Dlk1 MGI:94900

Gene Summary

Name:

delta like non-canonical Notch ligand 1

Synonyms:

pref-1, DlkI, pG2, SCP1, ZOG, Peg9, FA1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased total body fat amount	Dlk1^{em1(IMPC)Wtsi}	HOM	Early adult	6.59×10^-06
increased mean corpuscular hemoglobin	Dlk1^{em1(IMPC)Wtsi}	HOM	Early adult	9.51×10^-05
preweaning lethality, incomplete penetrance	Dlk1^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
decreased circulating glucose level	Dlk1^{em1(IMPC)Wtsi}	HOM	Early adult	8.85×10^-06
decreased lean body mass	Dlk1^{em1(IMPC)Wtsi}	HOM	Early adult	1.46×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Dlk1^{em1(IMPC)Wtsi}
HOM, Male, WTSI

Dlk1^{em1(IMPC)Wtsi}
WT, Female, WTSI

Dlk1^{em1(IMPC)Wtsi}
HOM, Female, WTSI

View all 106 images

Dlk1^{em1(IMPC)Wtsi}
asymmetric snout, head, abnormal snout morphology, WT, Female, WTSI

Dlk1^{em1(IMPC)Wtsi}
head, abnormal snout morphology, upturned snout, WT, Female, WTSI

Dlk1^{em1(IMPC)Wtsi}
head, asymmetric snout, abnormal snout morphology, WT, Female, WTSI

Dlk1^{em1(IMPC)Wtsi}
corneal vascularization, HOM, Male, WTSI

Human diseases caused by Dlk1 mutations

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

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

Human diseases associated with Dlk1 (6 diseases)
Human diseases predicted to be associated with Dlk1 (1084 diseases)

The table below shows human diseases associated to Dlk1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Intrauterine growth retardation, Postnatal growth retardation, Hypercholesterolemia	ORPHA:254531
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Intrauterine growth retardation, Postnatal growth retardation, Hypercholesterolemia	ORPHA:96184
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Large for gestational age, Large placenta, Umbilical hernia, Omphaloce...	ORPHA:254534
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Wrist flexion contracture, Coat hanger sign of ribs, Flexion contracture, Thoracic hypoplasia, Pr...	ORPHA:254528
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity, Intrauterine growth retardation, Postnatal growth retardation	ORPHA:254525
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Thoracic hypoplasia, Epicanthus, Camptodactyly, Hepatosplenomegaly, Hepatobl...	ORPHA:96334

The table below shows human diseases predicted to be associated to Dlk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level...	OMIM:615513
Immunodeficiency 24	Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate...	OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve...	OMIM:606843
Immunodeficiency 86	Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level	OMIM:619549
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir...	OMIM:618982
Immunodeficiency 64 With Lymphoproliferation	Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea...	OMIM:618534
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym...	OMIM:619924
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune...	OMIM:619220
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl...	OMIM:618987
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level	OMIM:233650
Glycogen Storage Disease Vi	Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlip...	OMIM:232700
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly	OMIM:606445
Immunodeficiency With Hyper-Igm, Type 2	Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c...	OMIM:605258
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level	OMIM:235550
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas...	OMIM:608106
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg...	OMIM:601859
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga...	OMIM:619707
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t...	ORPHA:70593
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop...	OMIM:610163
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs...	OMIM:618944
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla...	OMIM:616005
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti...	OMIM:617241
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal...	ORPHA:100024
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini...	OMIM:613493
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Inc...	OMIM:209950
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Short stature, Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hep...	OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Splenomegaly, Elevated proportion ...	OMIM:603909
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease...	OMIM:613500
Lymphoproliferative Syndrome, X-Linked, 1	Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ...	OMIM:308240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen...	OMIM:619846
Immunodeficiency 44	Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,...	OMIM:616636
Immunodeficiency 50	Neutropenia, Lymphopenia, Decreased circulating antibody level	OMIM:300988
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hepatomegaly, Splenomegaly	ORPHA:37748
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o...	OMIM:607271
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:615767
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Decreased circulating complement C3 concentration, Absent isohemagglutini...	OMIM:615559
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula...	OMIM:612692
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Increased ci...	OMIM:618495
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell...	OMIM:613501
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,...	OMIM:619824
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,...	ORPHA:859
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp...	OMIM:618261
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I...	OMIM:613502
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Absent tonsils, Absen...	ORPHA:277
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pa...	OMIM:614470
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ...	OMIM:615401
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant...	OMIM:607594
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the...	OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati...	ORPHA:169154
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia	ORPHA:482
Immunodeficiency 70	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos...	ORPHA:2688
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec...	OMIM:618048
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia, Decreased circulating total IgM	OMIM:610798
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop...	OMIM:619281
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ...	OMIM:300400
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Increased circulating antibody level, Hepatomegaly, Extramedullary hematopoie...	OMIM:615285
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 1	Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im...	OMIM:308230
Immunodeficiency 11	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo...	OMIM:615206
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Short sta...	OMIM:619868
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot...	OMIM:614699
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,...	OMIM:301082
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, ...	OMIM:614480
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Downslanted palpebral fissures, Cirrhosis, Hepatic failure, Decreased circu...	OMIM:616828
Boutonneuse Fever	Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Thrombocy...	ORPHA:83313
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv...	OMIM:617514
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Hepatic steatosis, Oligospermia, Increased LDL cholesterol concentratio...	OMIM:615703
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:615592
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr...	OMIM:619705
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency 43	Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine...	OMIM:241600
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati...	OMIM:619632
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissu...	ORPHA:280356
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:276
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I...	OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym...	ORPHA:331206
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the elbow, Short stature, Epicanthus, Synophrys, Radioulnar synostosis, Abnormal r...	ORPHA:3268
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level	OMIM:152800
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati...	OMIM:617099
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni...	OMIM:619510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos...	OMIM:616829
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:614069
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi...	ORPHA:2442
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet...	OMIM:301081
Lipodystrophy, Familial Partial, Type 4	Miscarriage, Hepatic steatosis, Lipodystrophy, Oligomenorrhea, Lipoatrophy, Hypertriglyceridemia	OMIM:613877
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Neutral Lipid Storage Disease With Myopathy	Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,...	OMIM:610717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia	OMIM:601457
Whim Syndrome 1	Decreased circulating antibody level, Neutropenia, Decreased circulating IgG level	OMIM:193670
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev...	OMIM:243700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally...	OMIM:602450
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased circulating an...	OMIM:618108
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Complete or near-complete absen...	OMIM:613494
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia	OMIM:617638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Decreased circulating IgA level, Increased ...	OMIM:242860
Glycine N-Methyltransferase Deficiency	Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Immunodeficiency 92	B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl...	OMIM:619652
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615395
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell...	OMIM:300853
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Glycogen Storage Disease Ixa1	Hyperuricemia, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Hypercholesterolemia, H...	OMIM:306000
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, Hepatocellular carcino...	ORPHA:369
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169160
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Cholestasis, Progressive Familial Intrahepatic, 11	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:619874
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Loss of subcutaneo...	ORPHA:435651
Lethal Congenital Contracture Syndrome 3	Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita	OMIM:611369
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th...	OMIM:616100
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,...	OMIM:619802
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev...	ORPHA:2585
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Increased circulating IgA level, Hepatomegaly, In...	OMIM:617388
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Short stature, Block vertebrae, Death in infancy, Severe short stature, Rib fus...	OMIM:277300
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy...	OMIM:301078
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Akt2-Related Familial Partial Lipodystrophy	Hepatic steatosis, Lipodystrophy, Increased intraabdominal fat, Hepatomegaly, Oligomenorrhea, Hyp...	ORPHA:79085
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Short stature	OMIM:609813
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells	OMIM:619693
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Missing ribs, Posterior rib fusion, Severe short stature, Intrauterine growth retar...	ORPHA:1797
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Lipe-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Oligomenorrhea, Increased adipose tissue around the ...	ORPHA:435660
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve...	OMIM:240500
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr...	OMIM:619774
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple...	OMIM:613101
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Dysgammaglobulinemia	ORPHA:158014
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Hepatic stea...	OMIM:608709
Cholesteryl Ester Storage Disease	Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S...	ORPHA:75234
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, ...	OMIM:226990
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat...	OMIM:605814
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Increased C-peptide level, Hepatic steatosis, Lipodystrophy, Hepatomegaly...	OMIM:615238
Reticular Dysgenesis	Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct...	OMIM:267500
Peroxisome Biogenesis Disorder 10A (Zellweger)	Downslanted palpebral fissures, Death in infancy, Hepatomegaly, Epicanthus	OMIM:614882
Immunodeficiency 67	Liver abscess, Increased circulating IgE level, Transient neutropenia	OMIM:607676
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Tempi Syndrome	Increased hematocrit, Increased circulating IgG level, Polycythemia	ORPHA:284227
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, Perianal abscess	OMIM:619437
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Igg4-Related Aortitis	Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa...	ORPHA:449400
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Increased circulating IgM level, ...	OMIM:615816
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H...	OMIM:619126
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function, Intrauterine growth r...	OMIM:617093
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism	ORPHA:436182
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r...	ORPHA:35078
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni...	OMIM:619752
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level	OMIM:616740
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto...	ORPHA:507
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep...	OMIM:301045
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr...	OMIM:619048
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen...	OMIM:613011
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg...	OMIM:214900
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipo...	OMIM:604367
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hepatic ...	OMIM:278000
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell...	ORPHA:3261
Glycogen Storage Disease Iii	Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kin...	OMIM:232400
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Increased circulating IgE level, Eosinophilia	OMIM:618523
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
Becker Nevus Syndrome	Supernumerary ribs, Pectus excavatum, Rib fusion, Lipoatrophy, Pectus carinatum	ORPHA:64755
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating IgG2 level, Decreased circulating IgG4 level, Decreased...	OMIM:300310
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase	OMIM:618400
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombo...	OMIM:615934
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co...	ORPHA:53693
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles...	ORPHA:1414
Femoral-Facial Syndrome	Short stature, Radioulnar synostosis, Inguinal hernia, Sprengel anomaly, Rib fusion, Upslanted pa...	ORPHA:1988
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Spondylocostal Dysostosis 5	Vertebral fusion, Supernumerary ribs, Missing ribs, Posterior rib fusion, Severe short stature, D...	OMIM:122600
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Spondylocostal Dysostosis 2, Autosomal Recessive	Disproportionate short-trunk short stature, Rib fusion	OMIM:608681
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor...	OMIM:606367
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Reticular Dysgenesis	Leukopenia, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Abnor...	ORPHA:33355
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec...	OMIM:102700
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Mandibuloacral Dysplasia	Delayed cranial suture closure, Contractures of the large joints, Increased circulating free fatt...	ORPHA:2457
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Lipodystrophy, Familial Partial, Type 1	Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t...	OMIM:608600
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Abnormal sternum morphology, Abnormal ey...	ORPHA:2990
Immunodeficiency, Common Variable, 6	Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r...	OMIM:613496
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hypercholesterolemia, Delayed cranial suture closure, Increased facial adipose tissue, Flexion co...	OMIM:248370
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l...	OMIM:300291
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level, Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Ap...	OMIM:300635
Hemochromatosis Type 4	Cirrhosis, Joint dislocation, Hepatic steatosis, Increased circulating ferritin concentration, Jo...	ORPHA:139491
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Hep...	OMIM:615980
Hemochromatosis, Type 4	Cirrhosis, Impotence, Elevated transferrin saturation, Hepatic steatosis, Increased circulating f...	OMIM:606069
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Increased circulating IgE level, Cutaneous abscess, Eosinophilia	OMIM:147060
Tularemia	Anemia, Brain abscess, Increased circulating antibody level, Abnormal nasopharyngeal adenoid morp...	ORPHA:3392
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Secondary amenorrhea	OMIM:301033
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl...	OMIM:619767
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Cirrhosis, Increased C-peptide level, Adipose tissue loss, Hepatic steatosi...	ORPHA:528
Cerebrofaciothoracic Dysplasia	Bifid ribs, Downslanted palpebral fissures, Hernia, Short stature, Epicanthus, Narrow chest, Syno...	ORPHA:1394
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipo...	OMIM:151660
Infantile Liver Failure Syndrome 3	Short stature, Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steato...	OMIM:618641
Analbuminemia	Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr...	OMIM:616000
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Multiple Symmetric Lipomatosis	Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly	ORPHA:2398
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Short thorax, Short stature, Rib segmentation abnormalities, Inguinal he...	ORPHA:2311
Immunodeficiency 22	Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev...	OMIM:615758
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Splenomegaly, Hepatomegaly	OMIM:619175
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen...	OMIM:600802
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Flexion contracture, Multiple joint contractures, Epicanthus, Dysplastic patella, ...	OMIM:265000
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia	OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Hyperbiliru...	OMIM:620010
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Elevat...	ORPHA:370
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Monoclonal elevation of IgG,...	ORPHA:91139
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cirrhosis, Granulomatous cholangitis, Granuloma, Sclerosing cholangitis, Interface hepatitis, Cho...	ORPHA:562639
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Horizontal ribs, Short stature, Short ribs, Death in infancy, Lateral clavicle hook, Acetabular s...	OMIM:617405
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Elevated circulating acylcarnitine concentration, Intrauterine growth retardation	ORPHA:26792
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat...	OMIM:615381
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote...	OMIM:144250
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell...	ORPHA:443811
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:300861
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Neonatal death, Hyperalaninemia, Hyperprolinemia	OMIM:615918
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Lipoatrophy, Pancreatitis, Hepatomegaly	ORPHA:79084
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt...	OMIM:617780
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat...	OMIM:618213
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin	ORPHA:3319
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ...	OMIM:615122
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellularity, Increased circ...	OMIM:617303
Autoimmune Hepatitis	Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Sclerosing cholangitis, Dif...	ORPHA:2137
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased circulating antibody level,...	ORPHA:449432
Poland Syndrome	Sprengel anomaly, Rib fusion, Short ribs	OMIM:173800
Primary Intestinal Lymphangiectasia	Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr...	ORPHA:90362
Rotor Syndrome	Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Conjunctival icterus...	ORPHA:3111
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Hepatic st...	ORPHA:363400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch...	ORPHA:209902
Microtriplication 11Q24.1	Genu valgum, Joint dislocation, Short stature, Synophrys, Long eyelashes, Hyperlipidemia, Upslant...	ORPHA:289522
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Splenomegaly, Hyperuricemia, Secondary amenorrhea, Oligomenorrhea, Hepatic steatosis, ...	ORPHA:79083
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R...	OMIM:601495
Patent Ductus Venosus	Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function	OMIM:601466
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Cellulitis, Secondary amenorrhea, Hepatic steatosis, Lipodystrophy, Loss of subcuta...	ORPHA:2348
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased...	OMIM:275350
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Congenital Disorder Of Glycosylation, Type Iig	Downslanted palpebral fissures, Rhizomelia, Short stature, Left ventricular hypertrophy, Camptoda...	OMIM:611209
Growth Hormone Insensitivity Syndrome	Short stature, Hypogonadism, Hypercholesterolemia	ORPHA:181393
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Failure to thrive, Severe intrauterine growth retardati...	ORPHA:231144
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc...	OMIM:603471
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Splenomegaly, Decreased circulating total IgM, B lymphocytopenia, Generalize...	OMIM:614700
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hepatic steatosis, Increased blood urea nitrogen, Hypergonadotropic hypogonadism...	OMIM:617872
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Short stature, Oligome...	ORPHA:264580
Insulin Autoimmune Syndrome	Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive...	ORPHA:411593
Citrullinemia Type Ii	Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ...	ORPHA:247585
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Short stature, Elevated hepatic transaminase, Hyperlipidemia	ORPHA:329249
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy...	OMIM:304790
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, De...	OMIM:619386
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Congenital Disorder Of Glycosylation, Type Ik	Flexion contracture, Hypogonadism, Death in infancy, Hepatomegaly, Intrauterine growth retardatio...	OMIM:608540
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Multiple Myeloma	Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I...	ORPHA:29073
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Primary Lipodystrophy	Cirrhosis, Splenomegaly, Hepatic steatosis, Lipodystrophy, Hyperlipidemia, Lipoatrophy, Menometro...	ORPHA:90970
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen...	ORPHA:209919
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Sézary Syndrome	Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte m...	ORPHA:3162
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera...	OMIM:613027
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Lassa Fever	Jaundice, Increased circulating IgM level	ORPHA:99824
Netherton Syndrome	Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Short stature, Oligome...	ORPHA:79240
Iga Pemphigus	Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Eosi...	ORPHA:555905
African Iron Overload	Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio...	ORPHA:139507
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgA level, Decreased circulat...	ORPHA:275
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Intrauterine growth retardation, Postnatal growth retardation, Hypercholesterolemia	ORPHA:254531
Glycogen Storage Disease Ixb	Hyperuricemia, Short stature, Increased hepatic glycogen content, Growth delay, Hepatomegaly, Inc...	OMIM:261750
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,...	ORPHA:79303
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Flexion contracture, Progressive clavicular acroosteolysis, Decre...	OMIM:608612
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombo...	OMIM:617591
Galactokinase Deficiency	Hypergalactosemia, Increased level of galactitol in plasma, Premature ovarian insufficiency, Hepa...	ORPHA:79237
Immunodeficiency 17	Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo...	OMIM:615607
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva...	OMIM:255120
Rift Valley Fever	Anemia, Hepatitis, Jaundice, Increased circulating IgM level, Thrombocytopenia, Increased circula...	ORPHA:319251
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Jaundice...	ORPHA:79124
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Intrauterine growth retardation, Hepatomegaly	ORPHA:1980
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, Cutaneous abscess, Decreased circulating IgA level, Eosinophilia, Increased circ...	OMIM:618282
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Acquired Partial Lipodystrophy	Hepatic steatosis, Lipoatrophy	ORPHA:79087
Apolipoprotein C-Ii Deficiency	Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest...	OMIM:207750
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Lipase Deficiency, Combined	Lipodystrophy, Hypertriglyceridemia, Pancreatitis	OMIM:246650
Niemann-Pick Disease, Type B	Short stature, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, ...	OMIM:607616
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Increased circulating IgE level, Leukocytosis	ORPHA:2902
Dysbetalipoproteinemia	Hypercholesterolemia, Hepatic steatosis, Gout, Acute pancreatitis, Increased LDL cholesterol conc...	ORPHA:412
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Vertebral fusion, Short thorax, Short stature, Block vertebrae, Missing ribs,...	OMIM:613686
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc...	OMIM:616084
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Increased serum iron, Hypogonadism, Secondary amenorrhea, Elevated t...	OMIM:613313
Cog4-Cdg	Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Hypercholesterolemia,...	ORPHA:263501
Rajab Interstitial Lung Disease With Brain Calcifications 2	Short stature, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyc...	OMIM:619013
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Death in infancy, Disproportionate short stature, Narrow ch...	ORPHA:1354
Hemochromatosis, Type 2A	Cirrhosis, Increased serum iron, Arthritis, Infertility, Azoospermia, Increased circulating ferri...	OMIM:602390
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Immunodeficiency 19	Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology	OMIM:615617
Pyoderma Gangrenosum	Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Neonatal Severe Primary Hyperparathyroidism	Narrow chest, Short stature, Splenomegaly, Hepatomegaly	ORPHA:417
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Bifid ribs, Vertebral fusion, Short stature, Epicanthus, Narrow chest, Synophrys, Craniosynostosi...	OMIM:213980
Immunodeficiency By Defective Expression Of Mhc Class Ii	Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation in response...	ORPHA:572
Ebola Hemorrhagic Fever	Leukopenia, Increased circulating antibody level, Hepatitis, Lymphopenia, Acute pancreatitis, Thr...	ORPHA:319218
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Short stature	ORPHA:366
Temple Syndrome	Flexion contracture, Short stature, Hypercholesterolemia, Hypertriglyceridemia, Intrauterine grow...	OMIM:616222
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Immunodeficiency 47	Leukopenia, Chronic decreased circulating total IgG, Hepatic fibrosis, Cirrhosis, Decreased circu...	OMIM:300972
Tick-Borne Encephalitis	Leukopenia, Abnormality of serum cytokine level, Increased circulating IgM level, Leukocytosis, T...	ORPHA:297
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase...	OMIM:264470
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Lymphopenia, Decreased circulating antibody level	ORPHA:100
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatitis, Jaundice, Hepatocellular carcinoma, In...	ORPHA:186
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Laron Syndrome	Abnormality of the elbow, Severe short stature, Delayed puberty, Hypercholesterolemia, Osteoarthr...	ORPHA:633
Ddost-Cdg	Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase, Short stature	ORPHA:300536
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra...	ORPHA:567983
Mulibrey Nanism	Short stature, Intrauterine growth retardation, Hepatomegaly	ORPHA:2576
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Elevated circulating creatine kinase concentration, Delayed puberty, Growth delay...	OMIM:615704
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Downslanted palpebral fissures, Sparse eyebrow, Bilateral ptosis, Blepharophimosis, Absent eyelas...	ORPHA:544488
Chylomicron Retention Disease	Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Growth delay...	ORPHA:71
Brucellosis	Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Granuloma, Lung absce...	ORPHA:1304
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level, Lymphadenopathy	ORPHA:69126
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Griscelli Syndrome	Leukopenia, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality of neutrophils...	ORPHA:381
Hyper-Igd Syndrome	Lymphadenitis, Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy...	OMIM:260920
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Increased circulating...	ORPHA:400
Kbg Syndrome	Downslanted palpebral fissures, Vertebral fusion, Short stature, Thoracic kyphosis, Synophrys, Lo...	OMIM:148050
Lambert Syndrome	Intrahepatic biliary atresia, Jaundice, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin...	OMIM:614582
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Congenital Analbuminemia	Increased alpha-globulin, Miscarriage, Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Hyperchole...	ORPHA:86816
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ...	OMIM:615518
Igg4-Related Pachymeningitis	Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Eosinophilia, Complement deficiency	ORPHA:449427
Gaucher Disease Type 1	Leukopenia, Cirrhosis, Anemia, Increased circulating antibody level, Hypersplenism, Pancytopenia,...	ORPHA:77259
Trichothiodystrophy 3, Photosensitive	Neutropenia, Increased circulating IgA level, Lymphopenia	OMIM:616395
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Coccidioidomycosis	Abnormality of the liver, Granuloma, Peritonitis, Lymphadenopathy, Increased circulating IgM leve...	ORPHA:228123
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Short stature, Elevated hepatic transaminase,...	ORPHA:98907
Prolidase Deficiency	Anemia, Prolonged neonatal jaundice, Increased circulating antibody level, Hepatomegaly, Thromboc...	OMIM:170100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hyperuricemia, Hyperlipidemia	ORPHA:364
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Increased facial adipose tissue, Minimal subcutaneous fat, Secondary amenorrhea, Re...	ORPHA:280365
Kyphomelic Dysplasia	Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Disproportionate short st...	ORPHA:1801
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Hepatosplenomegaly, Bone marrow hypocellularity, Increased circulating IgM le...	ORPHA:505248
Waldenström Macroglobulinemia	Leukemia, Normocytic anemia, Cryoglobulinemia, Abnormality of neutrophils, Lymphadenopathy, Hepat...	ORPHA:33226
Wilson Disease	Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Abnormality of the mens...	ORPHA:905
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno...	ORPHA:353298
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin...	ORPHA:101330
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang...	ORPHA:69663
Aicardi Syndrome	Bifid ribs, Multiple lipomas, Sparse lateral eyebrow, Block vertebrae, Supernumerary ribs, Missin...	ORPHA:50
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Pan...	OMIM:618805
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De...	OMIM:313900
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Intrauterine growth retardation	OMIM:301021
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Cholangiocarcinoma, Hepatocellula...	ORPHA:171
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi...	OMIM:238600
Aicardi Syndrome	Bifid ribs, Sparse lateral eyebrow, Block vertebrae, Supernumerary ribs, Missing ribs, Hepatoblas...	OMIM:304050
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Elevated hepatic transaminase, Elevated circulating creatine kinase concen...	ORPHA:42
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenopathy, Increased circulatin...	ORPHA:79078
Glycogen Storage Disease Ia	Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carc...	OMIM:232200
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level	ORPHA:2268
Mitochondrial Complex I Deficiency, Nuclear Type 15	Failure to thrive, Neonatal death, Flexion contracture, Intrauterine growth retardation	OMIM:618237
Jeune Syndrome	Abnormal sternum morphology, Short thorax, Abnormality of the liver, Short stature, Narrow chest,...	ORPHA:474
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertrigly...	OMIM:603552
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Death in infancy, Hepatocellular necrosis, Decreased plasma carnitine, Eleva...	OMIM:201475
Cat-Eye Syndrome	Abnormal rib morphology, Downslanted palpebral fissures, Intrauterine growth retardation, Short s...	ORPHA:195
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Death in infancy, Synophrys, Elevated hepatic transaminase, Long eyelashes, Hype...	OMIM:619064
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Decreased circulating antibody level, Neutropenia in presence of anti-neutropil antibodies, Hepat...	OMIM:615952
Infantile Sialic Acid Storage Disease	Epicanthus, Abnormal thorax morphology, Ptosis, Hepatomegaly, Cardiomegaly, Ascites, Death in chi...	OMIM:269920
19P13.12 Microdeletion Syndrome	Epicanthus, Synophrys, Hepatic steatosis, Hyperlipidemia, Intrauterine growth retardation, Cranio...	ORPHA:254346
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Progressive Familial Intrahepatic Cholestasis	Short stature, Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly	ORPHA:172
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Hepatomegaly, Splenomeg...	OMIM:612301
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Ptosis, Hepatomegaly, Hypocholesterolemia, Splenomegaly	OMIM:610539
Hereditary Folate Malabsorption	Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy...	ORPHA:90045
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperammonemia...	OMIM:600649
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Bone Marrow Failure Syndrome 5	Anemia, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level	OMIM:618165
Selective Igm Deficiency	Lymphadenitis, Decreased circulating total IgM, Neutropenia in presence of anti-neutropil antibod...	ORPHA:331235
Liver Failure, Infantile, Transient	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De...	OMIM:613070
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Immunodeficiency 68	Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess	OMIM:612260
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Epicanthus, Death in infancy, Synostosis...	ORPHA:1507
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Short stature	ORPHA:1513
Carnitine Deficiency, Systemic Primary	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De...	OMIM:212140
Good Syndrome	Thymoma, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Mediasti...	ORPHA:169105
9Q31.1Q31.3 Microdeletion Syndrome	Short clavicles, Highly arched eyebrow, Short stature, Hypercholesterolemia	ORPHA:401923
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Growth delay, Hypercholesterolemia, Peritonitis, Hypert...	ORPHA:567548
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Elevated circulating creatine kinase concentration, Increased LDL chol...	OMIM:616516
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hepatic failure, Death in infancy, Jaundice, Elevated hepatic transami...	OMIM:618528
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia, Decreased circulating antibody level	OMIM:619750
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,...	OMIM:613673
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Bell-shaped thorax, Hepatic failure, Hepatic fibrosis, Thoracic hypoplasia, Genu valgum, Short st...	OMIM:615630
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Intrauterine growth retardation, Postnatal growth retardation, Hypercholesterolemia	ORPHA:96184
Sialidosis Type 2	Flexion contracture, Short thorax, Short stature, Inguinal hernia, Hepatomegaly, Ascites, Pectus ...	ORPHA:87876
Smith-Magenis Syndrome	Synophrys, Hypertriglyceridemia, Short stature, Hypercholesterolemia	OMIM:182290
Acquired Generalized Lipodystrophy	Cirrhosis, Abnormal circulating lipid concentration, Hepatic steatosis, Acute pancreatitis, Gener...	ORPHA:79086
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Growth delay	OMIM:618010
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly	OMIM:615924
Immunodeficiency 59 And Hypoglycemia	Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp...	OMIM:233600
Glycogen Storage Disease Ib	Splenomegaly, Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Hepat...	OMIM:232220
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot...	ORPHA:221139
Mandibuloacral Dysplasia Progeroid Syndrome	Delayed cranial suture closure, Sparse eyebrow, Genu valgum, Flexion contracture, Short stature, ...	OMIM:619127
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Decreased circulating total IgM, Anemia, Decreased circulating I...	OMIM:620040
Fish-Eye Disease	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Bile Acid Synthesis Defect, Congenital, 5	Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi...	OMIM:616278
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Growth Hormone Deficiency, Isolated Partial	Short stature, Postnatal growth retardation	OMIM:615925
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, ...	ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Short stature, Hepatocellular carcinoma, Intrahepatic cholestas...	OMIM:601847
Bardet-Biedl Syndrome 19	Hepatic steatosis, Hypogonadism	OMIM:615996
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Macrocephaly/Autism Syndrome	Lymphopenia, Splenomegaly, Hepatomegaly, Decreased circulating antibody level	OMIM:605309
Monosomy 13Q34	Downslanted palpebral fissures, Horizontal eyebrow, Epicanthus, Hepatic steatosis, Metrorrhagia, ...	ORPHA:96168
Japanese Encephalitis	Increased circulating antibody level, Neutrophilia, Increased circulating IgM level	ORPHA:79139
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Elevated hepatic transaminase, Hyperlipidemia	ORPHA:2089
Bare Lymphocyte Syndrome, Type Ii	Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormality, Cholangitis, Viral hepatitis, C...	OMIM:209920
Wolf-Hirschhorn Syndrome	Downslanted palpebral fissures, Hernia, Epicanthus, Abnormality of the gallbladder, Abnormal thor...	ORPHA:280
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas...	ORPHA:71212
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic failure, Elevated circulating acylcarnitine concentration, Decreased plasma free carnitin...	ORPHA:228305
Dpm1-Cdg	Knee flexion contracture, Downslanted palpebral fissures, Hepatic fibrosis, Elevated hepatic tran...	ORPHA:79322
Stuve-Wiedemann Syndrome 2	Camptodactyly, Stillbirth, Death in adolescence, Neonatal death, Intrauterine growth retardation	OMIM:619751
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Hypercholesterolemia, Hyperuricemia, Short stature, Enlarged kidney, Hepa...	ORPHA:79259
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Primary Pigmented Nodular Adrenocortical Disease	Irregular menstruation, Increased circulating cortisol level, Abnormal subcutaneous fat tissue di...	ORPHA:189439
Griscelli Syndrome Type 2	Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly	ORPHA:79477
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Abnormality of the elbow, Abnormality of the wrist, Radioulnar synos...	ORPHA:2319
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti...	OMIM:301000
Axial Spondylometaphyseal Dysplasia	Flared, irregular rib ends, Thoracic hypoplasia, Short stature, Short ribs, Mild postnatal growth...	ORPHA:168549
Pallister-Hall Syndrome	Short stature, Decreased circulating cortisol level, Hip dislocation, Rib fusion, Neonatal death,...	OMIM:146510
Coronary Artery Disease, Autosomal Dominant 2	Gout, Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Roifman Syndrome	Downslanted palpebral fissures, Hip contracture, Short stature, Long palpebral fissure, Prominent...	OMIM:616651
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hepatic fibrosis, Anemia, Decreased circulating total IgM, Exocrine pancreatic insufficiency, Lym...	OMIM:620005
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Short ribs, Block vertebrae, Missing ribs, Inguinal hernia, Rib fusion, Thin ribs	OMIM:271520
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Hemochromatosis, Type 1	Cirrhosis, Increased serum iron, Impotence, Arthropathy, Elevated hepatic transaminase, Hepatocel...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribution, Premature o...	OMIM:212065
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy, Peritonitis, Increased circulating IgA level, Hepatomegaly	ORPHA:343
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au...	ORPHA:1572
Mosaic Trisomy 14	Camptodactyly of finger, Blepharophimosis, Ptosis, Narrow chest, Abnormal rib morphology	ORPHA:1703
3-Methylglutaconic Aciduria, Type V	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:610198
Megalocornea-Mental Retardation Syndrome	Downslanted palpebral fissures, Genu valgum, Short stature, Epicanthus, Hypercholesterolemia, Gen...	OMIM:249310
Tangier Disease	Cicatricial ectropion, Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Ect...	OMIM:205400
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Lymphopenia,...	OMIM:243150
Microphthalmia, Syndromic 3	Vertebral fusion, Short stature, Supernumerary ribs, Missing ribs, Rib fusion, Hypogonadotropic h...	OMIM:206900
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Cirrhosis, Neoplasm of the liver, Biliary tract abnormality, Increased...	ORPHA:90003
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Knee flexion contracture, Increased total bilirubin, Elevated circulating alanine aminotransferas...	OMIM:608836
Crimean-Congo Hemorrhagic Fever	Leukopenia, Hemoperitoneum, Jaundice, Neutrophilia, Pancytopenia, Acute pancreatitis, Lymphadenop...	ORPHA:99827
Pontine Tegmental Cap Dysplasia	Ptosis, Ankle clonus, Rib fusion	OMIM:614688
Zttk Syndrome	Absent gallbladder, Downslanted palpebral fissures, Sparse eyebrow, Flexion contracture, Short st...	OMIM:617140
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Neonatal death, Death in childhood, Death in infancy	OMIM:614096
Alstrom Syndrome	Irregular menstruation, Hyperuricemia, Short stature, Chronic active hepatitis, Elevated hepatic ...	OMIM:203800
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Decreased fertility in females, Cirrhosis, Reduced intraabdominal adipose ti...	OMIM:269700
Galloway-Mowat Syndrome 7	Cubitus valgus, Pectus excavatum, Short stature, Hypercholesterolemia	OMIM:618348
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:615577
Yellow Fever	Increased circulating interleukin 6 concentration, Pancreatic hyperplasia, Jaundice, Neutrophilia...	ORPHA:99829
Achondrogenesis Type 1B	Femoral hernia, Short thorax, Narrow chest, Disproportionate short stature, Severe short stature,...	ORPHA:93298
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Death in infanc...	OMIM:617156
Bone Dysplasia, Lethal Holmgren Type	Bell-shaped thorax, Joint dislocation, Hernia, Rhizomelia, Abnormality of the elbow, Short ribs, ...	ORPHA:1842
Lipodystrophy, Congenital Generalized, Type 1	Decreased fertility in females, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcuta...	OMIM:608594
Alveolar Echinococcosis	Pancreatic cysts, Biliary cirrhosis, Anemia, Increased circulating antibody level, Liver abscess,...	ORPHA:284
Mitochondrial Complex I Deficiency, Nuclear Type 11	Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Biliary Atresia, Extrahepatic	Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc...	OMIM:210500
Autosomal Recessive Kenny-Caffey Syndrome	Delayed cranial suture closure, Hypocalcemic tetany, Thin clavicles, Growth delay, Hypocalcemic s...	ORPHA:93324
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Downslanted palpebral fissures, Vertebral fusion, Short stature, ...	OMIM:268310
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly	ORPHA:156
Infantile Liver Failure Syndrome 1	Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly	OMIM:615438
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatomegaly, Tele...	OMIM:231680
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Elevated transferrin saturation, Azoospermia, Increased circulating ferritin concen...	OMIM:615234
Aromatase Deficiency	Genu valgum, Enlarged polycystic ovaries, Hepatic steatosis, Female infertility, Male infertility...	ORPHA:91
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Primary amenorrhea, Cirrhosis, Microvesicular hepatic steatosis, Epicanthus, Polysplenia, Macrono...	OMIM:619418
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Biliary cirrhosis, Leukopenia, Increased...	ORPHA:2298
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Dorsocervical f...	ORPHA:189427
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Short stature, Hepatitis, Elevated h...	OMIM:614921
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites	ORPHA:890
Aspergillosis	Hepatitis, Neutropenia, Increased circulating IgE level, Eosinophilia	ORPHA:1163
Chanarin-Dorfman Syndrome	Hepatic steatosis, Ectropion, Hepatomegaly	OMIM:275630
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
C3 Glomerulopathy	Decreased circulating complement C4 concentration, Paraproteinemia, Decreased circulating complem...	ORPHA:329918
Aicardi-Goutieres Syndrome 4	Splenomegaly, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Death in childhood...	OMIM:610333
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion	ORPHA:261197
Grant Syndrome	Joint dislocation, Short stature, Narrow chest, Abnormality of the glenoid fossa, Sprengel anomal...	ORPHA:2097
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatomegaly	OMIM:201450
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Hyperalaninemia, Elevated hepatic transaminase, Ptosis, Hypergonadotropic hypogonadism...	ORPHA:298
Fetal Akinesia Deformation Sequence 4	Neonatal death, Prenatal death, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Aredyld Syndrome	Aplasia/Hypoplasia of the eyebrow, Short stature, Hepatomegaly, Intrauterine growth retardation, ...	ORPHA:1133
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Elevated circulating alanine aminotransferase concentration, Increased hepatic e...	OMIM:261680
Mevalonic Aciduria	Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymph...	OMIM:610377
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating antibody level, Hepatosplenomegaly, Decrea...	ORPHA:79330
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,...	OMIM:607765
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Short stature, Epicanthus, Hepatomegaly, Upslanted palpebral fissure, Intrauterine growth retarda...	ORPHA:50812
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Short stature, Synostosis of carpal bones, Tarsal synostosis, Cubitus va...	ORPHA:1836
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Flexion contracture, Short stature, Absent eyelashes, Aplasia/Hypopl...	ORPHA:90153
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia	OMIM:620133
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Agammaglobulinemia, Lymphopenia, Abnormality of the pancreas	ORPHA:935
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Fetal Gaucher Disease	Splenomegaly, Flexion contracture, Death in infancy, Ectropion, Hepatomegaly, Stillbirth, Abnorma...	ORPHA:85212
D-Bifunctional Protein Deficiency	Delayed cranial suture closure, Very long chain fatty acid accumulation, Thoracic hypoplasia, Epi...	OMIM:261515
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste...	ORPHA:541423
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti...	OMIM:208900
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Intrauterine growth retardation	ORPHA:1506
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue	ORPHA:71529
Hypercholesterolemia, Familial, 2	Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma	OMIM:144010
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Jaundice, Scarring alopecia of scalp, Cholestasis, Hepatomegaly, Sparse eyelashes...	ORPHA:59303
Cog1-Cdg	Downslanted palpebral fissures, Rhizomelia, Flat acetabular roof, Hepatosplenomegaly, Posterior r...	ORPHA:263508
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves...	OMIM:256810
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hyperhomocystinemia, Pectus excavatum, Hepatic steatosis, Inguinal hernia, Pe...	OMIM:236200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Large for gestational age, Large placenta, Umbilical hernia, Omphaloce...	ORPHA:254534
Smith-Magenis Syndrome	Short stature, Synophrys, Delayed puberty, Hypercholesterolemia, Upslanted palpebral fissure, Hyp...	ORPHA:819
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Short stature, Achilles tendon contracture, Hip dislocation, Steatorrhea, Hepat...	OMIM:616263
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Intrauterine growth retardation, Upslanted palpebral fissure, Omphalocele, Abnormal...	ORPHA:3035
Megalocornea-Intellectual Disability Syndrome	Downslanted palpebral fissures, Genu varum, Short stature, Epicanthus, Hypercholesterolemia	ORPHA:2479
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly	OMIM:237800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short stature, Thoracic dysplasia, Inguinal hernia, Acetabular spurs, Hepatomegaly, N...	OMIM:614376
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Decreased circulating antibody level, Thrombocytosis, Hepatomegaly, Iron deficiency anemi...	OMIM:226300
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short stature, Calcinosis, Aplasia/Hypoplasia of the clavicles, Delayed puberty, Generalized lipo...	ORPHA:90154
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem...	OMIM:614300
Galactosemia I	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased level of galact...	OMIM:230400
Igg4-Related Kidney Disease	Lymphadenitis, Decreased circulating complement C3 concentration, Increased circulating IgG4 leve...	ORPHA:449395
Sitosterolemia 1	Reduced haptoglobin level, Hypercholesterolemia, Arthritis, Elevated circulating sitosterol conce...	OMIM:210250
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Inguinal hernia, Neonatal death	OMIM:619602
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Epicanthus, Jaundice, Camptodactyly, Elevated circulating long cha...	OMIM:214110
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Ichthyosis, Congenital, Autosomal Recessive 4B	Failure to thrive, Neonatal death, Death in infancy	OMIM:242500
Galactose Mutarotase Deficiency	Decreased liver function, Hypergalactosemia, Cholestasis, Hepatomegaly	ORPHA:570422
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Flexion contracture	OMIM:612138
Igg4-Related Ophthalmic Disease	Increased circulating IgG4 level, Retroperitoneal fibrosis, Cholangitis, Lymphadenopathy, Eosinop...	ORPHA:449563
1P36 Deletion Syndrome	Camptodactyly of finger, 11 pairs of ribs, Horizontal eyebrow, Abnormal eyebrow morphology, Abnor...	ORPHA:1606
Wolf-Hirschhorn Syndrome	Vertebral fusion, Short stature, Epicanthus, Hip dislocation, Radioulnar synostosis, Biliary trac...	OMIM:194190
Progeria-Short Stature-Pigmented Nevi Syndrome	Multiple joint contractures, Short stature, Premature ovarian insufficiency, Neoplasm of the panc...	ORPHA:2959
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Camptodactyly, Cholestasis, Hepatomegaly, Decreased liver function, Elevated ci...	OMIM:608104
10Q22.3Q23.3 Microduplication Syndrome	Upslanted palpebral fissure, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, Hypoglycemia, Postprandial hy...	OMIM:262190
Cimdag Syndrome	Microvesicular hepatic steatosis, Hypogonadism, Lipodystrophy, Death in early adulthood, Hepatome...	OMIM:619273
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Hepatic cysts, Lymphopenia, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Lipodystrophy, Congenital Generalized, Type 4	Flexion contracture, Elevated hepatic transaminase, Elevated circulating creatine kinase concentr...	OMIM:613327
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, De...	OMIM:619381
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Flexion contracture, Death in infancy, Hyperammonemia, Growth delay, Hep...	ORPHA:1194
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Hypona...	ORPHA:275761
Renpenning Syndrome	Epicanthus, Thin eyebrow, Pectus excavatum, Severe short stature, Sprengel anomaly, Growth delay,...	ORPHA:3242
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase...	OMIM:617713
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Short stature, Elevated circulating creatine kinase concentration	ORPHA:52430
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Osteoarthritis, Hypercholesterolemia	ORPHA:77296
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Elevated hepatic transaminase, Abnormal circulating creatine kinase concentrat...	ORPHA:369840
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Nemaline Myopathy 10	Neonatal death, Flexion contracture, Congenital contracture, Death in infancy	OMIM:616165
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Abnormality of iron homeostasis, Arthropathy, Stiff interphalangeal joints, Arthritis,...	ORPHA:465508
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Oculoskeletodental Syndrome	Abnormal sternum morphology, Thoracic hypoplasia, Short stature, Epicanthus, Thoracic kyphosis, E...	OMIM:618440
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic failure, Elevated circulating acylcarnitine concentration, Decreased plasma free carnitin...	ORPHA:228308
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased ...	ORPHA:293978
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Tyrosinemia Type 1	Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Bile Acid Conjugation Defect 1	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ...	OMIM:619232
Igg4-Related Thyroid Disease	Sclerosing cholangitis, Increased circulating IgG4 level, Pancreatic fibrosis, Retroperitoneal fi...	ORPHA:64744
Nephrotic Syndrome, Type 1	Hypoproteinemia, Growth delay, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Rauch-Steindl Syndrome	Upslanted palpebral fissure, Short stature, Epicanthus, Almond-shaped palpebral fissure, Miscarri...	OMIM:619695
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Increased circulating very long-chain fatty acid concentration, Epicanthus inve...	OMIM:614862
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Omphalocele	ORPHA:93267
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe...	OMIM:602347
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Short stature, Death in infancy, Arthritis, Elevated circulating C-reactive pro...	OMIM:619423
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyelashes, Absent eyebrow, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Abnorm...	ORPHA:363618
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Fused cervical vertebrae, Pectus excavatum, Ptosis, Abnormal clavicle morphology, ...	ORPHA:2522
Cardiospondylocarpofacial Syndrome	Fusion of middle ear ossicles, Short stature, Epicanthus, Fused cervical vertebrae, Carpal synost...	OMIM:157800
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Hypophosphatasia	Short stature, Hypercalcemia, Narrow chest, Craniosynostosis, Abnormal rib morphology	ORPHA:436
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased fertility, Short stature, Hypogonadism, Abnormal rib morphology, Abnormality of the hum...	ORPHA:2234
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Femoral-Facial Syndrome	Hypoplastic acetabulae, Limited elbow movement, Short stature, Humeroradial synostosis, Missing r...	OMIM:134780
Alg12-Cdg	Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Metatropic Dysplasia	Camptodactyly of finger, Narrow chest, Long thorax, Severe short stature, Abnormal rib morphology	ORPHA:2635
Mednik Syndrome	Hepatic fibrosis, Cirrhosis, Death in infancy, Increased circulating very long-chain fatty acid c...	OMIM:609313
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Hepatic necrosis, Growth delay, Fulminant hepatic failure	OMIM:231530
Familial Chylomicronemia Syndrome	Recurrent pancreatitis, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Acute pancreatitis, Hype...	ORPHA:444490
Baller-Gerold Syndrome	Downslanted palpebral fissures, Sagittal craniosynostosis, Patellar hypoplasia, Limited elbow mov...	OMIM:218600
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, De...	ORPHA:90363
Lead Poisoning	Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased circulating IgE le...	ORPHA:330015
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti...	OMIM:613812
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti...	OMIM:618278
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated hepatic transaminase, Left ventricular hypertrophy, Hepatosplenomegaly...	OMIM:619487
Q Fever	Anemia, Abnormality of the liver, Increased circulating antibody level, Hepatitis, Granuloma, Cry...	ORPHA:781
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Wrist flexion contracture, Coat hanger sign of ribs, Flexion contracture, Thoracic hypoplasia, Pr...	ORPHA:254528
Spondyloepimetaphyseal Dysplasia, Irapa Type	Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Disproportionate short-limb ...	ORPHA:93351
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Dentinogenesis imperfecta, Delayed closure of the anterior fontanelle, Short stature, Asymmetry o...	OMIM:604922
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the eyebrow, Short stature, Hernia of the abdominal wall, Upslanted palpebr...	ORPHA:3082
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy	OMIM:617184
Combined Oxidative Phosphorylation Deficiency 4	Hyperammonemia, Intrauterine growth retardation, Hepatomegaly, Death in infancy	OMIM:610678
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Synophrys, Inguinal hernia, Hepatomegaly, Splenomegaly, Umbilical hernia	OMIM:252900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating fer...	OMIM:616860
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Thin clavicles, Birth length less than 3rd percentile...	OMIM:244460
Fibrochondrogenesis	Camptodactyly of finger, Downslanted palpebral fissures, Bell-shaped thorax, Broad ribs, Short st...	ORPHA:2021
Immunodeficiency 54	Splenomegaly, Short stature, Hepatomegaly, Intrauterine growth retardation, Postnatal growth reta...	OMIM:609981
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia	OMIM:277460
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed cranial suture closure, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubin...	ORPHA:90674
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia	OMIM:615966
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H...	OMIM:277900
Abetalipoproteinemia	Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Keratoc...	ORPHA:14
Beta-Thalassemia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:848
X-Linked Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Achilles tendon contracture, Elevated circulating creatine kinase conc...	ORPHA:98863
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Pancytopenia, Lymphopen...	OMIM:242900
Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Achilles tendon contracture, Elevated circulating creatine kinase conc...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Achilles tendon contracture, Elevated circulating creatine kinase conc...	ORPHA:98853
Endosteal Hyperostosis, Worth Type	Abnormal rib morphology, Clavicular sclerosis	ORPHA:2790
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase...	OMIM:256040
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Azoospermia, Short stature	ORPHA:2578
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato...	OMIM:212138
Carnitine Palmitoyltransferase Ii Deficiency	Hepatic failure, Elevated circulating acylcarnitine concentration, Decreased plasma free carnitin...	ORPHA:157
Combined Oxidative Phosphorylation Deficiency 11	Hepatic steatosis, Decreased liver function, Hepatomegaly, Death in infancy	OMIM:614922
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Short stature, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with e...	OMIM:211600
Fanconi-Bickel Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl...	ORPHA:2088
Turner Syndrome Due To Structural X Chromosome Anomalies	Neck pterygia, Biliary cirrhosis, Enlarged thorax, Epicanthus, Elevated hepatic transaminase, Pec...	ORPHA:99413
Mosaic Monosomy X	Neck pterygia, Biliary cirrhosis, Enlarged thorax, Epicanthus, Elevated hepatic transaminase, Pec...	ORPHA:99228
Monosomy X	Neck pterygia, Biliary cirrhosis, Enlarged thorax, Epicanthus, Elevated hepatic transaminase, Pec...	ORPHA:99226
Turner Syndrome	Neck pterygia, Biliary cirrhosis, Enlarged thorax, Epicanthus, Elevated hepatic transaminase, Pec...	ORPHA:881
Thymoma	Decreased circulating antibody level, Pure red cell aplasia, Abnormal lymphocyte proliferation, A...	ORPHA:99867
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles...	OMIM:243300
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia	OMIM:616267
Glycogen Storage Disease Ic	Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Gout, Delayed pube...	OMIM:232240
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Short stature, Epicanthus, Growth delay, Hepatomegaly, Intrauterine growth retardation	OMIM:618541
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Cirrhosis, Epicanthus, Death in infancy, Elevated hepatic transaminase, Elevat...	OMIM:614576
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Disproportionate short-limb short stature, Intrauterine growth retardation	ORPHA:2772
Phaver Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Epicanthus, Pterygium, Radioulnar synost...	ORPHA:2876
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Hyperlipidemia	ORPHA:199276
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating IgG level, Decreased circulating total IgM, Liver abscess, Cholangitis, Vir...	ORPHA:183675
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Schimke Immuno-Osseous Dysplasia	Short stature, Growth delay, Hyperlipidemia, Intrauterine growth retardation, Shallow acetabular ...	ORPHA:1830
Cole-Carpenter Syndrome 2	Downslanted palpebral fissures, Dentinogenesis imperfecta, Short stature, Coronal craniosynostosi...	OMIM:616294
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons...	ORPHA:508533
Peroxisome Biogenesis Disorder 13A (Zellweger)	Elevated circulating alanine aminotransferase concentration, Delayed closure of the anterior font...	OMIM:614887
Gaucher Disease Type 3	Anemia, Increased circulating antibody level, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splen...	ORPHA:77261
Bloom Syndrome	Acute myeloid leukemia, Decreased circulating total IgM, Decreased circulating antibody level, Ab...	ORPHA:125
Cardiomyopathy, Familial Restrictive, 6	Portal vein hypoplasia, Death in infancy, Portal artery hyperplasia, Hepatomegaly, Ascites	OMIM:619433
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Splenomegaly, Unconjugated hyperbilirubinemia, Jaundice, Cholecystitis...	OMIM:266200
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:144600
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Missing ribs, Hepatomegaly	ORPHA:1759
Adrenomyodystrophy	Hepatic steatosis, Short stature	ORPHA:977
Poems Syndrome	Increased circulating antibody level, Thrombocytosis, Lymphadenopathy, Polycythemia	ORPHA:2905
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr...	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Neonatal death	OMIM:610498
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Abnormality of the liver, Short stature, Missing ribs, Limbal dermoid, A...	ORPHA:1834
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:614924
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ...	ORPHA:470
Kagami-Ogata Syndrome	Short palpebral fissure, Bell-shaped thorax, Flexion contracture, Blepharophimosis, Inguinal hern...	OMIM:608149
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Achilles tendon contracture, Elevated circulating creatine kinase conc...	ORPHA:98855
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia, Hyperlipidemia, Menorrhagia, Joint hemorrhage	ORPHA:35909
Heme Oxygenase 1 Deficiency	Asplenia, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspar...	OMIM:614034
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615595
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Downslanted palpebral fissures, Short stature, Ptosis, Hypogonadotropic hypogonadism, Pectus cari...	ORPHA:3068
Diastrophic Dysplasia	Camptodactyly of finger, Joint dislocation, Elbow dislocation, Abnormal clavicle morphology, Neon...	ORPHA:628
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Very long chain fatty acid accumulation, Chro...	ORPHA:98908
Macrophage Activation Syndrome	Elevated circulating alanine aminotransferase concentration, Juvenile rheumatoid arthritis, Hepat...	ORPHA:158061
Bloom Syndrome	Decreased circulating total IgM, Hepatic steatosis, Decreased circulating IgA level, Elevated hem...	OMIM:210900
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Seckel Syndrome 10	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:617253
Immunodeficiency 40	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:616433
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology, Craniosynostosis, Intrauterine growth retardation, Short stature	ORPHA:2145
Gm1-Gangliosidosis, Type I	Thickened ribs, Death in infancy, Inguinal hernia, Severe short stature, Hepatomegaly, Intrauteri...	OMIM:230500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit...	ORPHA:508542
Interstitial Lung And Liver Disease	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic...	OMIM:615486
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatic failure, Abnormal circulating lipid concentration, Short stature, Hypersplenis...	ORPHA:77293
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Alagille Syndrome 1	Hepatic failure, Cirrhosis, Upslanted palpebral fissure, Elevated hepatic transaminase, Hepatocel...	OMIM:118450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Reduced proportion of CD4-negati...	ORPHA:37042
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev...	ORPHA:64753
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ...	ORPHA:33402
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah...	OMIM:235555
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Vici Syndrome	Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lym...	OMIM:242840
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Increased circulating interleukin 6 concentration, Perianal ab...	OMIM:301074
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Hepatic steatosis, Neonatal hyperb...	ORPHA:348
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Failure to thrive, Growth delay, Neonatal death, Death in childhood, Intrauteri...	OMIM:245400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Flexion contracture, Short stature, Azotemia, Hepatic steatosis, Hypoplasia of the o...	OMIM:619321
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat...	OMIM:615558
Wolman Disease	Hepatic failure, Steatorrhea, Growth delay, Hepatomegaly, Ascites, Splenomegaly	ORPHA:75233
Cooper-Jabs Syndrome	Camptodactyly of finger, Short stature, Missing ribs, Congenital diaphragmatic hernia, Abnormal r...	ORPHA:1488
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Short sta...	OMIM:611881
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Elevated hepatic transaminase, Hepatic hemangioma, Hepatomegaly, Narr...	ORPHA:73230
Xylt1-Cdg	Joint dislocation, Short stature, Synophrys, Growth delay, Hepatomegaly, Short clavicles, Broad ribs	ORPHA:370930
Robinow Syndrome	Radioulnar dislocation, Short stature, Missing ribs, Rib fusion, Umbilical hernia, Fused thoracic...	ORPHA:97360
Mgat2-Cdg	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ...	ORPHA:79329
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Caroli Disease	Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,...	ORPHA:53035
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Sagittal craniosynostosis, Epicanthus,...	OMIM:610199
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymph...	OMIM:615688
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ...	OMIM:617394
Trichohepatoenteric Syndrome 2	Cirrhosis, Decreased serum iron, Hepatomegaly, Chronic hepatitis, Intrauterine growth retardation	OMIM:614602
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Short stature, Unconjugated hyperbilirubinemia, Elevated hepatic transaminase, Hypocal...	OMIM:613658
Shwachman-Diamond Syndrome 2	Genu varum, Anterior rib cupping, Short stature, Death in infancy, Steatorrhea, Hepatomegaly, Exo...	OMIM:617941
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem...	OMIM:615947
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Sparse eyebrow, Downslanted palpebral fissures, Sagittal craniosynostosis, Ep...	ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Downslanted palpebral fissures, Horizontal eyebrow, 11 pairs of ribs, Bi...	OMIM:607872
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Intrauterine growth retardation	OMIM:619003
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Cirrhosis, Flexion contracture, Abnormal muscle glycogen content, Elevated hepat...	ORPHA:367
Pearson Syndrome	Hepatic failure, Hyperalaninemia, Abnormality of the liver, Hypophosphatemia, Hypokalemia, Elevat...	ORPHA:699
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Synophrys, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252920
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Rhizomelia, Hepatic steatosis, Growth delay, Intrauterine growth retardation	OMIM:616271
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ch...	OMIM:613404
Whim Syndrome	Lymphadenitis, Abnormality of neutrophil morphology, Decreased circulating antibody level, Lympho...	ORPHA:51636
H Syndrome	Abnormal eyebrow morphology, Hernia, Hypogonadism, Short stature, Enlarged kidney, Camptodactyly,...	ORPHA:168569
Autoimmune Polyendocrinopathy Type 4	Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Decreased ...	ORPHA:227990
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Azoospermia, Abnormal rib morphology, Short stature	OMIM:601076
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Microvesicular hepatic steatosis, Death in infancy, Elevated hepatic transaminas...	OMIM:611126
Cole-Carpenter Syndrome	Downslanted palpebral fissures, Short stature, Abnormal rib morphology, Intrauterine growth retar...	ORPHA:2050
Gracile Bone Dysplasia	Asplenia, Short stature, Death in infancy, Hypocalcemia, Hypoplastic spleen, Ascites, Thin ribs	OMIM:602361
Oculocerebrorenal Syndrome Of Lowe	Patellar dislocation, Hip dislocation, Hypercholesterolemia, Hyponatremia, Abnormal rib morpholog...	ORPHA:534
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Downslanted palpebral fissures, Hepatic failure, Hepatosplenomegaly, Pancreatic lymphangiectasis,...	ORPHA:1655
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Panniculitis	OMIM:618398
Cranioectodermal Dysplasia 2	Horizontal ribs, Biliary cirrhosis, Epicanthus, Elevated hepatic transaminase, Pectus excavatum, ...	OMIM:613610
Al Amyloidosis	Anemia, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level, Hepa...	ORPHA:85443
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Short-Rib Thoracic Dysplasia 12	Horizontal ribs, Short thorax, Periportal fibrosis, Epicanthus, Short ribs, Thoracic dysplasia, I...	OMIM:269860
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hep...	ORPHA:158057
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Hernia, Synophrys, Hepatomegaly, Splenomegaly	OMIM:252930
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Sparse eyebrow, Neonatal death, Hepatomegaly	OMIM:618810
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic cysts, Horizontal ribs, Hepatic fibrosis, Short stature, Short ribs, Death in infancy,...	OMIM:208500
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Increased LDL chol...	OMIM:267700
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Immunodeficiency 87 And Autoimmunity	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Hypokalem...	OMIM:619573
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:617068
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Enamel hypoplasia, Wrist swelling, Elevated maternal serum alpha-fetopro...	OMIM:309000
Dubin-Johnson Syndrome	Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili...	ORPHA:234
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,...	OMIM:615356
Alpha-1-Antitrypsin Deficiency	Hepatitis, Jaundice, Hepatic failure, Hepatomegaly	ORPHA:60
Nijmegen Breakage Syndrome	T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc...	OMIM:251260
Primary Sjögren Syndrome	Leukopenia, Biliary cirrhosis, Decreased circulating complement C3 concentration, Decreased circu...	ORPHA:289390
Protoporphyria, Erythropoietic, 1	Hepatic failure, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Elevated hepatic transaminase, Growth delay, Elevated circulati...	ORPHA:66634
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum	OMIM:602196
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Autoimmune Polyendocrinopathy Type 3	Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Decreased ...	ORPHA:227982
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Lagophthalmos, Microvesicular hepatic steatosis, Decre...	ORPHA:404454
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Enamel hypoplasia, Hepatic fibrosis, Hepatic failure, Sparse eyebro...	OMIM:607626
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F...	ORPHA:231222
White Forelock With Malformations	Sprengel anomaly, Abnormal rib morphology, Epicanthus	ORPHA:2475
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in childhood, Arthrogryposis multiplex congenita, Death in infancy	OMIM:619334
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Mucopolysaccharidosis, Type Iva	Genu valgum, Large elbow, Flaring of rib cage, Prominent sternum, Grayish enamel, Ulnar deviation...	OMIM:253000
Meier-Gorlin Syndrome 1	Flexion contracture, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Absent sternal ...	OMIM:224690
Transaldolase Deficiency	Hepatic fibrosis, Cirrhosis, Synophrys, Hepatosplenomegaly, Micronodular cirrhosis, Hepatomegaly,...	OMIM:606003
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Hepatic steatosis, Ptosis, Joint contracture of the 5th finger, Intrauterine growth r...	OMIM:619934
Fanconi Anemia, Complementation Group O	Short stature, Neonatal death, Miscarriage, Death in infancy	OMIM:613390
Isolated Klippel-Feil Syndrome	Abnormal vertebral segmentation and fusion, Sprengel anomaly, Abnormal rib morphology, Cervical C...	ORPHA:2345
Glycerol Kinase Deficiency	Hypertriglyceridemia, Growth delay, Short stature	OMIM:307030
Shwachman-Diamond Syndrome 1	Irregular ossification at anterior rib ends, Anterior rib cupping, Enlargement of the costochondr...	OMIM:260400
Hurler Syndrome	Camptodactyly of finger, Hernia, Abnormality of the elbow, Short stature, Death in infancy, Abnor...	ORPHA:93473
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Fused cervical vertebrae, Elevated circulating C-reactive protein concentration, Hepatomegaly, Jo...	OMIM:612852
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Genu valgum, Thoracic hypoplasia, Rhizomelia, Short stature, Multiple ...	OMIM:613848
Diamond-Blackfan Anemia 6	Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume	OMIM:612561
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Flexion contracture, Microcytic anemia	ORPHA:98791
Biliary, Renal, Neurologic, And Skeletal Syndrome	Biliary cirrhosis, Hepatomegaly, Hypercholesterolemia, Knee dislocation, Splenomegaly, Conjugated...	OMIM:619534
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con...	OMIM:214950
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Neonatal death, Arthrogryposis multiplex congenita, Stillbirth	OMIM:236500
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hepatomegaly, Death in childhood, Hypo...	OMIM:602579
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Short stature, Short ribs, Craniosynostosis, Irregular carpa...	OMIM:252600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, S...	ORPHA:83617
Liver Disease, Severe Congenital	Epicanthus, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Elevated circulating...	OMIM:619991
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal rib morphology, Downslanted palpebral fissures, Missing ribs, Epicanthus	ORPHA:2759
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia	ORPHA:90065
Gaisböck Syndrome	Hyperuricemia, Increased circulating renin level, Gout, Cholecystitis, Hypercholesterolemia, Hype...	ORPHA:90041
Lissencephaly 7 With Cerebellar Hypoplasia	Neonatal death, Arthrogryposis multiplex congenita, Death in infancy	OMIM:616342
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:615812
Trisomy 13	Hernia, Narrow chest, Abnormal eyelash morphology, Abnormal rib morphology, Intrauterine growth r...	ORPHA:3378
Cenani-Lenz Syndrome	Downslanted palpebral fissures, Synostosis of carpal bones, Hip dislocation, Radioulnar synostosi...	ORPHA:3258
Fucosidosis	Flexion contracture, Hernia, Short stature, Tortuosity of conjunctival vessels, Barrel-shaped che...	OMIM:230000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Downslanted palpebral fissures, Hepatic failure, Death in infancy, Inguinal hernia, Pancreatic ly...	OMIM:235255
Campomelia, Cumming Type	Pancreatic cysts, Abnormality of the pancreas, Death in infancy, Abnormal thorax morphology, Hepa...	ORPHA:1318
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hip subluxation, Genu valgum, Reduced pancreatic beta cells, Short stature, Irregular carpal bone...	OMIM:226980
Ogden Syndrome	Delayed cranial suture closure, Minimal subcutaneous fat, Epicanthus, Pectus excavatum, Prominent...	OMIM:300855
Alagille Syndrome	Downslanted palpebral fissures, Reduced number of intrahepatic bile ducts, Delayed puberty, Chole...	ORPHA:52
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating antibody level...	ORPHA:3132
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Joint swelling, Elevated circulating C-reactive protein concentrat...	ORPHA:85414
Melnick-Needles Syndrome	Delayed cranial suture closure, Short thorax, Short stature, Narrow chest, Hip dislocation, Abnor...	ORPHA:2484
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating total IgM, Generalized lymphadenopathy, De...	ORPHA:420741
Classical-Like Ehlers-Danlos Syndrome Type 2	Widened atrophic scar, Shoulder dislocation, Ventral hernia, Radioulnar dislocation, Joint disloc...	ORPHA:536532
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Epicanthus, Camptodactyly, Hip dislocation, Pectus excavatum, Hepatomegaly, Arth...	OMIM:252500
Atypical Werner Syndrome	Decreased fertility, Aplasia/Hypoplasia of the eyebrow, Hypogonadism, Secondary amenorrhea, Prema...	ORPHA:79474
Aicardi-Goutieres Syndrome 7	Anemia, Hemolytic anemia, Increased circulating antibody level, Hepatitis, Generalized lymphadeno...	OMIM:615846
Wolcott-Rallison Syndrome	Abnormality of the liver, Short stature, Jaundice, Hyperbilirubinemia, Elevated hepatic transamin...	ORPHA:1667
Mucopolysaccharidosis Type 4	Genu valgum, Short thorax, Hernia, Joint dislocation, Short stature, Grayish enamel, Abnormal rib...	ORPHA:582
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Flexion contracture, Methylmalonic acidemia, Elevated hepatic transaminase, Increased intramyocel...	ORPHA:17
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Failure to thrive, Inguinal hernia, Growth delay, Neonatal death, Deat...	OMIM:614052
Dominant Beta-Thalassemia	Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos...	ORPHA:231226
Lethal Congenital Contracture Syndrome Type 1	Abnormal rib morphology, Abnormality of the elbow, Short stature	ORPHA:1486
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Knee flexion contracture, Cirrhosis, Microvesicular hepatic steatosis, Flexion contracture, Hip c...	OMIM:300868
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Increased intramyocellular lipid droplets, Ptosis, Hepatomegaly, Decreased liver function, Increa...	OMIM:220110
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Abnormality of T cell physiology, Generalized lymphadenopat...	OMIM:181000
Beta-Thalassemia Major	Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin c...	ORPHA:231214
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Elevated hepatic transaminase, Growth delay	ORPHA:445038
Faciocardiomelic Dysplasia, Lethal	Small for gestational age, Neonatal death	OMIM:227270
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Abnormal circulating creatine kinase concentration, Downslanted palpebra...	ORPHA:2215
Fish-Eye Disease	Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly	ORPHA:79292
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, B lymphocytopenia, Hepatitis, Neutropenia in presence of anti-neutropil antibo...	ORPHA:391487
Pallister-Hall Syndrome	Downslanted palpebral fissures, Distal arthrogryposis, Short stature, Hip dislocation, Inguinal h...	ORPHA:672
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Microvesicular hepatic steatosis, Hypokalemia, Portal fibrosis, Cholestasis, In...	OMIM:619377
Hypermanganesemia With Dystonia 1	Cirrhosis, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubine...	OMIM:613280
Greenberg Dysplasia	Thoracic hypoplasia, Hepatosplenomegaly, Hepatic calcification, Hepatomegaly, Beaded ribs, Short ...	OMIM:215140
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Ptosis, Diffuse hepatic steatosis, Hepatomegaly	ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Increased hepatic glycogen content, Copper accumulation in liver, Growth delay,...	OMIM:614946
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach...	ORPHA:30391
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Hepatitis, Jaundice, Conjunctival icterus, Increased circulating ferritin concentra...	OMIM:194380
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Elevated circulating creatine kinase concentration, Hepatomegaly, Hyperlipidemia, I...	ORPHA:565612
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Posterior rib fusion, Annular pancreas, Omphalocele, Neonatal death, Right ventricular ...	OMIM:265380
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Microvesicular hepatic steatosis, Periportal fibrosis, Elevated hepatic transaminase, Cholangitis...	OMIM:124000
Oculocerebrocutaneous Syndrome	Missing ribs, Congenital diaphragmatic hernia, Ptosis, Eyelid coloboma, Congenital hip dislocatio...	ORPHA:1647
Argininemia	Portal fibrosis, Hyperammonemia, Micronodular cirrhosis, Hyperargininemia, Cholestasis, Hepatomeg...	OMIM:207800
Tubulointerstitial Nephritis And Uveitis Syndrome	Reduced hematocrit, Increased circulating antibody level, Normocytic anemia, Increased circulatin...	ORPHA:91500
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia	OMIM:210200
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated hepatic transaminase, Pancreatitis, Hypercholesterolemia	OMIM:619471
Smith-Lemli-Opitz Syndrome	Hip subluxation, Cirrhosis, Short stature, Epicanthus, Death in infancy, Intrauterine growth reta...	OMIM:270400
Antley-Bixler Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Delayed cranial suture closure, Elbow an...	ORPHA:83
Caroli Syndrome	Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Hyperbil...	ORPHA:480520
Lipodystrophy, Familial Partial, Type 7	Recurrent pancreatitis, Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck...	OMIM:606721
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Proteasome-Associated Autoinflammatory Syndrome 4	Flexion contracture, Generalized lipodystrophy, Hepatomegaly, Panniculitis, Splenomegaly	OMIM:619183
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Elevated hepatic transaminase, Bile duct proliferation, Decreased liver function...	OMIM:618329
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity, Intrauterine growth retardation, Postnatal growth retardation	ORPHA:254525
Cirrhotic Cardiomyopathy	Abnormal circulating A-type atrial natriuretic peptide concentration, Cirrhosis, Jaundice, Conjun...	ORPHA:57777
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased...	OMIM:603553
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F	OMIM:619769
Visceral Steatosis, Congenital	Hepatic steatosis, Jaundice, Neonatal death, Hypocalcemia	OMIM:228100
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death	OMIM:601612
Scleromyxedema	Paraproteinemia	ORPHA:167635
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Epicanthus, Abnormal rib morphology, Broad ribs	ORPHA:2519
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Ascites, Palpebral edema, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Enlarged kidney, Malformation of the hepatic ductal plate, Cholestasi...	OMIM:615415
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bell-shaped thorax, Genu varum, Short ribs, Disproportionate short-limb short stature, Hepatomega...	OMIM:602557
Holzgreve Syndrome	Abnormal rib morphology, Intrauterine growth retardation, Abnormality of mesentery morphology	ORPHA:2167
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Neonatal death, Enlar...	OMIM:208540
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas	OMIM:618162
Woodhouse-Sakati Syndrome	Abnormal spermatogenesis, Aplasia/Hypoplasia of the eyebrow, Hypogonadism, Premature ovarian insu...	ORPHA:3464
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia, Decreased circulating IgG level	OMIM:271510
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Epicanthus, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Up...	OMIM:200995
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormality of the spleen, Abnormality of mesentery morphology	ORPHA:93941
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hyperuricemia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, ...	ORPHA:93111
Werner Syndrome	Elevated circulating alanine aminotransferase concentration, Hypogonadism, Short stature, Elevate...	OMIM:277700
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev...	OMIM:619525
Schwartz-Jampel Syndrome	Wrist flexion contracture, Blepharospasm, Elevated circulating creatine kinase concentration, Pec...	ORPHA:800
Arima Syndrome	Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Ptosis, Growth delay, Hepatomegaly	OMIM:243910
Thanatophoric Dysplasia, Type Ii	Lethal short-limbed short stature, Neonatal death	OMIM:187601
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal rib morphology, Sprengel anomaly, Abnormal dental enamel morphology	ORPHA:2180
X-Linked Hypophosphatemia	Genu varum, Genu valgum, Enlargement of the costochondral junction, Cellulitis, Enthesitis, Arthr...	ORPHA:89936
Fructose Intolerance, Hereditary	Cirrhosis, Hyperuricemia, Jaundice, Hypophosphatemia, Elevated hepatic transaminase, Hyperbilirub...	OMIM:229600
Bent Bone Dysplasia Syndrome 2	Short sternum, Hypoplastic acetabulae, Short ribs, Hepatomegaly, Intrauterine growth retardation,...	OMIM:620076
Mitochondrial Trifunctional Protein Deficiency	Diffuse hepatic steatosis, Left ventricular hypertrophy, Chronic hepatic failure, Cholestasis, Hy...	ORPHA:746
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens...	ORPHA:131
Marburg Hemorrhagic Fever	Leukopenia, Increased circulating antibody level, Jaundice, Reticulocytosis, Lymphopenia, Lymphad...	ORPHA:99826
Myhre Syndrome	Short palpebral fissure, Hypogonadism, Blepharophimosis, Inguinal hernia, Ptosis, Severe short st...	ORPHA:2588
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Jaundice, Elevated hepatic transaminase, Acute pancreatitis, Hyperammonemia, Hepat...	ORPHA:20
Trisomy 1Q	Camptodactyly of finger, Downslanted palpebral fissures, Short thorax, Congenital diaphragmatic h...	ORPHA:261344
Vacterl/Vater Association	Abnormality of the pancreas, Abnormality of the gallbladder, Congenital diaphragmatic hernia, Abn...	ORPHA:887
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Lagophthalmos, Upslanted palpebral fissure, Entropion, Short stature, Re...	ORPHA:3455
Lymphatic Malformation 12	Inguinal hernia, Neonatal death, Death in adolescence	OMIM:620014
Holt-Oram Syndrome	Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Sprengel anomaly, Abnormal clavi...	ORPHA:392
Cartilage-Hair Hypoplasia	Sparse eyebrow, Abnormality of the pancreas, Short thorax, Rhizomelia, Epicanthus, Narrow chest, ...	ORPHA:175
Porphyria, Congenital Erythropoietic	Conjunctivitis, Joint contracture of the hand, Short stature, Corneal scarring, Jaundice, Absent ...	OMIM:263700
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip subluxation, Flexion contracture, Medial flaring of the eyebrow, Reduced subcutaneous adipose...	OMIM:619503
Boomerang Dysplasia	Severe short stature, Neonatal death	OMIM:112310
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Thoracic hypoplasia, Epicanthus, Camptodactyly, Hepatosplenomegaly, Hepatobl...	ORPHA:96334
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Decreased circulating co...	ORPHA:95699
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Small for gestational age, Failure to thrive, Death in adolescence, Neonatal de...	OMIM:619055
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Disproportionate short-limb short stature, Neonatal death	OMIM:601376
Abcd Syndrome	Neonatal death, Large for gestational age	OMIM:600501
Fabry Disease	Abnormal circulating lipid concentration, Short stature, Arthritis, Left ventricular hypertrophy,...	ORPHA:324
Prune Belly Syndrome	Decreased fertility, Congenital hip dislocation, Abnormal rib morphology, Pectus excavatum	ORPHA:2970
Nephrotic Syndrome, Type 14	Ptosis, Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia	OMIM:617575
Dyssegmental Dysplasia, Silverman-Handmaker Type	Disproportionate short-limb short stature, Severe short stature, Occipital encephalocele, Neonata...	OMIM:224410
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Larsen-Like Syndrome, Lethal Type	Neonatal death	OMIM:245650
Cranioectodermal Dysplasia 1	Enamel hypoplasia, Hepatic failure, Hepatic fibrosis, Short thorax, Rhizomelia, Sagittal craniosy...	OMIM:218330
Gaucher Disease	Cirrhosis, Anemia, Increased circulating antibody level, Hepatitis, Pancytopenia, Hepatomegaly, T...	ORPHA:355
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Short stature, Hypophosphatemia, Elevated hepatic transaminase, Hepatomegaly, Hypouricemia	OMIM:616026
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia, Mild postnatal growth retardation, Hepatomegaly, Prolonged neonatal jaundice,...	OMIM:224120
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Dubowitz Syndrome	Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circula...	OMIM:223370
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal rib morphology, Congenital diaphragmatic hernia, Death in infancy	ORPHA:1120
Lethal Congenital Contracture Syndrome 1	Neonatal death, Arthrogryposis multiplex congenita	OMIM:253310
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Horizontal ribs, Downslanted palpebral fissures, Short stature, Epicanthus, Short ribs, Narrow ch...	OMIM:617088
Cleidocranial Dysplasia	Genu valgum, Short stature, Narrow chest, Down-sloping shoulders, Wormian bones, Abnormal rib mor...	ORPHA:1452
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Intrauterine growth retardation, Death in infancy	OMIM:618835
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Intrauterine growth retardation, Death in infancy	OMIM:618839
Overhydrated Hereditary Stomatocytosis	Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly	OMIM:185000
Steinert Myotonic Dystrophy	Decreased fertility, Impotence, Bilateral ptosis, Elevated hepatic transaminase, Male hypogonadis...	ORPHA:273
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hepatomegaly, Hepatic c...	OMIM:263200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Genu valgum, Synophrys, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Broad eyebro...	OMIM:619475
Poland Syndrome	Abnormal sternum morphology, Abnormality of the liver, Short ribs, Finger symphalangism, Retinal ...	ORPHA:2911
Tyrosinemia, Type I	Hypermethioninemia, Cirrhosis, Hepatic failure, Enlarged kidney, Elevated hepatic transaminase, H...	OMIM:276700
Hardikar Syndrome	Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l...	OMIM:301068
Trisomy 18	Camptodactyly of finger, Hernia, Short stature, Epicanthus, Blepharophimosis, Congenital diaphrag...	ORPHA:3380
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal rib morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Cervical C...	OMIM:118100
Postinfectious Vasculitis	Increased circulating antibody level, Cryoglobulinemia, Viral hepatitis, Increased circulating Ig...	ORPHA:48435
Simpson-Golabi-Behmel Syndrome	Polysplenia, Hepatoblastoma, Hepatomegaly, Pancreatic islet-cell hyperplasia, Increased circulati...	ORPHA:373
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Hypertriglyceridemia, Hypergonadotropic hypogonadism, Primary amenorrhea	ORPHA:66628
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Cirrhosis, Epicanthus, Hepatomegaly, Hyperoxaluria	OMIM:601539
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Afibrinogenemia, Congenital	Neonatal death, Death in childhood, Death in infancy, Death in adolescence	OMIM:202400
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ...	OMIM:617062
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr...	OMIM:618620
Trichinellosis	Increased circulating IgE level	ORPHA:863
Ppoma	Intermittent jaundice, Extrahepatic cholestasis, Increased circulating cortisol level, Neoplasm o...	ORPHA:97278
Digeorge Syndrome	Short palpebral fissure, Femoral hernia, Patellar dislocation, Short stature, Blepharophimosis, I...	OMIM:188400
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Hypertriglyceridemia, Hypergonadotropic hypogonadism, Primary amenorrhea	ORPHA:179494
Wiedemann-Rautenstrauch Syndrome	Delayed closure of the anterior fontanelle, Flexion contracture, Reduced subcutaneous adipose tis...	OMIM:264090
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death	OMIM:602199
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Micro...	OMIM:203700
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole...	ORPHA:650
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Somatostatinoma	Intermittent jaundice, Extrahepatic cholestasis, Increased circulating cortisol level, Neoplasm o...	ORPHA:97283
Autosomal Dominant Popliteal Pterygium Syndrome	Ankyloblepharon, Popliteal pterygium, Nonketotic hyperglycinemia, Abnormal rib morphology	ORPHA:1300
Mosaic Trisomy 8	Camptodactyly of finger, Patellar aplasia, Short stature, Arthrogryposis multiplex congenita, Nar...	ORPHA:96061
Viss Syndrome	Hypereosinophilia, Increased circulating IgG level, Increased circulating IgE level, Decreased ci...	OMIM:619472
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Homozygous Familial Hypercholesterolemia	Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia	ORPHA:391665
Pagod Syndrome	Short stature, Death in infancy, Abnormality of the spleen, Congenital diaphragmatic hernia, Abno...	ORPHA:991
Smith-Lemli-Opitz Syndrome	Downslanted palpebral fissures, Rhizomelia, Short stature, Epicanthus, Abnormality of the gallbla...	ORPHA:818
Tangier Disease	Left ventricular hypertrophy, Hepatosplenomegaly, Ectropion, Hypocholesterolemia, Hypertriglyceri...	ORPHA:31150
Xp21 Deletion Syndrome	Hypogonadotropic hypogonadism, Hypertriglyceridemia, Growth delay, Elevated circulating creatine ...	ORPHA:261476
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a...	ORPHA:124
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Severe failure to thrive	ORPHA:423479
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Familial Osteodysplasia, Anderson Type	Hyperuricemia, Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Thick...	ORPHA:2769
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Downslanted palpebral fissures, Synostosis of carpal bones, Carpal synos...	ORPHA:90652
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Hypophosphatemia, Growth delay, Hepatomegaly, Abnormal rib morphology, Hypocalcemia...	ORPHA:667
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating IgA level, Decreased circulating total IgM	ORPHA:369837
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Intrauterine growth retardation, Cardiomegaly, Shallow orbits, Umbilical hernia, Po...	ORPHA:96191
Monosomy 9P	Downslanted palpebral fissures, Hernia, Epicanthus, Blepharophimosis, Synophrys, Congenital diaph...	ORPHA:261112
Surfactant Metabolism Dysfunction, Pulmonary, 1	Failure to thrive, Neonatal death, Death in infancy	OMIM:265120
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Elevated hepatic transaminase, Hyperkalemia, Delayed puberty, Hyperlipidemia, Hypo...	ORPHA:293987
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death	OMIM:619817
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H...	OMIM:241080
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomegaly, Hyperp...	ORPHA:158048
Monosomy 9Q22.3	Downslanted palpebral fissures, Epicanthus, Pectus excavatum, Abnormal rib morphology, Metopic sy...	ORPHA:77301
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Flexion contracture, Abnormal hemoglobin	ORPHA:847
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Hyponatremia, Ascites, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypo...	OMIM:618183
Dextrocardia	Pancreatic hypoplasia, Abnormality of abdominal situs, Congenital hip dislocation, Abnormal rib m...	ORPHA:1666
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Umbilical hernia	OMIM:301040
Mucopolysaccharidosis Type 3	Genu valgum, Flexion contracture, Synophrys, Inguinal hernia, Abnormal clavicle morphology, Hepat...	ORPHA:581
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Short stature, Hypophosphatemia, Abnormal clavicle morpholo...	ORPHA:249
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Elbow dislocation, Severe short sta...	ORPHA:2554
Alström Syndrome	Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Dorsocervical fat pad, Olig...	ORPHA:64
Osteogenesis Imperfecta	Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib ...	ORPHA:666
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Death in infancy, Left ventricular hypertrophy, Inguinal hernia...	OMIM:220111
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelic arm shortening, Disproportionate short stature, Narrow chest, Abnormal rib morphology,...	ORPHA:93317
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Short stature, Keratoconjunctivitis, Ectropion, Abnormal rib morphology	ORPHA:2907
Radio-Renal Syndrome	Abnormal rib morphology, Severe short stature, Abnormality of the elbow	ORPHA:3015
Tetraamelia-Multiple Malformations Syndrome	Abnormal rib morphology, Missing ribs	ORPHA:3301
Chédiak-Higashi Syndrome	Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating ferritin conce...	ORPHA:167
Charge Syndrome	Short stature, Epicanthus, Ptosis, Delayed puberty, Eyelid coloboma, Hypogonadotropic hypogonadis...	ORPHA:138
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal rib morphology, Symblepharon, Thick eyebrow, Telecanthus	ORPHA:488434
Neu-Laxova Syndrome 1	Joint contracture of the hand, Yellow subcutaneous tissue covered by thin, scaly skin, Spina bifi...	OMIM:256520
Meacham Syndrome	Neonatal death, Death in infancy, Aplasia of the right hemidiaphragm, Stillbirth, Aplasia of the ...	OMIM:608978
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Conjunctivitis, Flexion contracture, Ectropion, Abnormal rib morphology,...	ORPHA:2908
Ulbright-Hodes Syndrome	Short sternum, Birth length less than 3rd percentile, Short ribs, Humeroradial synostosis, Severe...	ORPHA:3404
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neonatal death, Growth delay, Death in infancy	OMIM:617248
Restrictive Dermopathy 1	Flexion contracture, Short umbilical cord, Hydropic placenta, Limb joint contracture, Stillbirth,...	OMIM:275210
Charge Syndrome	Downslanted palpebral fissures, Radial head subluxation, Hypocalcemia, Down-sloping shoulders, Pt...	OMIM:214800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death	OMIM:619362
Vater/Vacterl Association	Abnormal sternum morphology, Radioulnar synostosis, Abnormal rib morphology, Intrauterine growth ...	OMIM:192350
Townes-Brocks Syndrome	Short stature, Blepharophimosis, Limbal dermoid, Delayed puberty, Abnormal rib morphology	ORPHA:857

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 Dlk1

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 Dlk1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dlk1^{em1(IMPC)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Dlk1^{em1(IMPC)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dlk1^em1Wtsi Dlk1^em2Wtsi	PMC6671969

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MGI Allele	Allele Type	Produced
Dlk1^{tm214456(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Dlk1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Dlk1^{em1(IMPC)Wtsi}	Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dlk1 MGI:94900

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

DSS Histology

X-ray

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Dlk1 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data