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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
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
preweaning lethality, incomplete penetrance	Dlk1^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
increased mean corpuscular hemoglobin	Dlk1^{em1(IMPC)Wtsi}	HOM	Early adult	9.51×10^-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.

Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral 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 (1098 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	Postnatal growth retardation, Intrauterine growth retardation, Hypercholesterolemia	ORPHA:254531
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Hypercholesterolemia, Postnatal growth retardation, Cryptorchidism, Intrauterine g...	ORPHA:96184
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ...	ORPHA:254534
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Epicanthus, Inguinal hernia, Pectus excavatum, Postnatal growth retardation, Flexion...	ORPHA:254528
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Intrauterine growth retardation, Obesity	ORPHA:254525
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Narrow chest, Hepatoblastoma, Hepatomegaly, Short stature, Interphalangeal j...	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	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c...	OMIM:615513
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	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	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	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, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:232700
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:601859
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig...	OMIM:616005
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Increased circulating IgG level,...	OMIM:209950
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Short stature, Lipodystr...	OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:603909
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad...	OMIM:618048
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 102	Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti...	OMIM:301082
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating...	ORPHA:83313
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho...	OMIM:615703
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ...	ORPHA:276
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane...	ORPHA:331206
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Epicanthus, Short stature, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Pectus c...	ORPHA:3268
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level	OMIM:152800
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre...	OMIM:619510
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	OMIM:610717
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Miscarriage, Lipoatrophy, Oligomenorrhea, Hepatic steatosis	OMIM:613877
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c...	OMIM:620210
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	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, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Combined Oxidative Phosphorylation Deficiency 16	Death in infancy, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase...	OMIM:615395
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy...	OMIM:306000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide...	ORPHA:369
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D...	ORPHA:169160
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures	OMIM:611369
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Death in infancy, Severe short stature, Short stature, Block vertebrae, Rib fus...	OMIM:277300
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Short stature	OMIM:609813
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Missing ribs, Short thorax, Abnormal rib morphology, Upslanted palpebral fi...	ORPHA:1797
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Lipodystrophy, Partial, Acquired, Susceptibility To	Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipose tissue, Loss of s...	OMIM:608709
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Peroxisome Biogenesis Disorder 10A (Zellweger)	Death in infancy, Epicanthus, Downslanted palpebral fissures, Hepatomegaly	OMIM:614882
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Irregular menstruation, Hepatic steatosis, Inc...	OMIM:615238
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level	OMIM:616740
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Femoral-Facial Syndrome	Inguinal hernia, Short stature, Cryptorchidism, Rib fusion, Abnormal rib morphology, Upslanted pa...	ORPHA:1988
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec...	OMIM:301045
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre...	OMIM:619048
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos...	OMIM:278000
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:232400
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Becker Nevus Syndrome	Lipoatrophy, Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs	ORPHA:64755
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Oligomenorrhea, ...	ORPHA:79085
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Gracile Syndrome	Death in early adulthood, Increased circulating ferritin concentration, Cholestasis, Cirrhosis, E...	ORPHA:53693
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Follicular hyperplasia, Paratracheal lymphadenopathy, Increased ...	OMIM:615934
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Spondylocostal Dysostosis 5	Vertebral fusion, Severe short stature, Missing ribs, Disproportionate short-trunk short stature,...	OMIM:122600
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion, Disproportionate short-trunk short stature	OMIM:608681
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ...	ORPHA:33355
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Abnormal eyelid morphology, Abnormal sternum morphology, Pterygium, Short stat...	ORPHA:2990
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Hepatomegaly, Severe B lymphocytopenia, Lymphopenia, Aplasia o...	OMIM:102700
Immunodeficiency, Common Variable, 6	Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n...	OMIM:613496
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Inguinal hernia, Short stature, Camptodactyly of finger, Congenit...	ORPHA:2311
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnormal circu...	OMIM:615980
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess	OMIM:147060
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c...	OMIM:265000
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin ...	OMIM:606069
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Cerebrofaciothoracic Dysplasia	Epicanthus, Short stature, Synophrys, Rib fusion, Narrow chest, Bifid ribs, Hernia, Sprengel anom...	ORPHA:1394
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Secondary amenorrhea	OMIM:301033
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Amenorrhea, Oligomenorrhe...	ORPHA:528
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Multiple Symmetric Lipomatosis	Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:620010
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Hepatic steatosis	ORPHA:26792
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age	OMIM:601820
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency 22	Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ...	OMIM:615758
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir...	ORPHA:562639
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Increased circulat...	ORPHA:2137
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Short stature, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short r...	OMIM:617405
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin...	ORPHA:443811
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia...	ORPHA:91139
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Short stature	ORPHA:329249
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone m...	OMIM:617303
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Rhizomelia, Short stature, Postnatal growth retardation, Cryptorchidism, Rib ...	OMIM:611209
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Lipoatrophy	ORPHA:79084
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Rotor Syndrome	Conjugated hyperbilirubinemia, Conjunctival icterus, Jaundice, Intermittent jaundice, Hyperbiliru...	ORPHA:3111
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Poland Syndrome	Sprengel anomaly, Rib fusion, Short ribs	OMIM:173800
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat...	OMIM:615122
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel...	ORPHA:90362
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Microtriplication 11Q24.1	Joint dislocation, Short stature, Synophrys, Hyperlipidemia, Genu valgum, Upslanted palpebral fis...	ORPHA:289522
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Dy...	ORPHA:79083
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt...	ORPHA:231144
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:264580
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep...	OMIM:304790
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Incr...	OMIM:617872
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hyperammonemia, Growth delay, Hypercholesterolemia, Increased C-peptide level	OMIM:620211
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated c...	OMIM:619386
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Death in infancy, Splenomegaly, Flexion contracture, Hypogonadism, Intrauterine gro...	OMIM:608540
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ...	OMIM:300755
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Intrauterine growth retardation, Hypercholesterolemia	ORPHA:254531
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:79240
Lassa Fever	Increased circulating IgM level, Jaundice	ORPHA:99824
Temple Syndrome	Hypertriglyceridemia, Short stature, Hypercholesterolemia, Cryptorchidism, Flexion contracture, I...	OMIM:616222
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased muscle glycogen content, Hyper...	OMIM:261750
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ...	OMIM:608612
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ...	ORPHA:79303
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosplenomegaly...	ORPHA:79237
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Growth delay, ...	ORPHA:263501
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Increased circulating antibody lev...	OMIM:617591
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess...	OMIM:618282
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Abnormality of the liver, Hepatomegaly	ORPHA:1980
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Splen...	OMIM:607616
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Short stature, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, R...	OMIM:613686
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis	ORPHA:79087
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Rift Valley Fever	Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th...	ORPHA:319251
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Abnormal ...	ORPHA:1354
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypoalbum...	OMIM:619013
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Inguinal hernia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Bilateral pt...	ORPHA:544488
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Epicanthus, Inguinal hernia, Short stature, Craniosynostosis, Highly arched eye...	OMIM:213980
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab...	ORPHA:572
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Short stature, Narrow chest	ORPHA:417
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Short stature	ORPHA:366
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Kbg Syndrome	Vertebral fusion, Telecanthus, Short stature, Cryptorchidism, Synophrys, Rib fusion, Cervical rib...	OMIM:148050
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,...	OMIM:300972
Ataxia-Telangiectasia	Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level	ORPHA:100
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Short stature	ORPHA:300536
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn...	ORPHA:186
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Tick-Borne Encephalitis	Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor...	ORPHA:297
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Hepatomegaly	ORPHA:2576
Laron Syndrome	Severe short stature, Osteoarthritis, Abnormality of the elbow, Delayed puberty, Hypercholesterol...	ORPHA:633
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebro...	OMIM:615704
Netherton Syndrome	Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level	OMIM:256500
Papa Syndrome	Increased circulating antibody level, Lymphadenopathy	ORPHA:69126
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Growth delay, Steatorrhea...	ORPHA:71
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:1304
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos...	OMIM:260920
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Short stature, Hyperuricemia	ORPHA:364
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased ...	ORPHA:77259
Congenital Analbuminemia	Miscarriage, Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hyperchole...	ORPHA:86816
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o...	ORPHA:400
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatitis	ORPHA:449427
19P13.12 Microdeletion Syndrome	Epicanthus, Craniosynostosis, Cryptorchidism, Synophrys, Hyperlipidemia, Arthrogryposis multiplex...	ORPHA:254346
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Coccidioidomycosis	Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph...	ORPHA:228123
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy...	ORPHA:505248
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Ptosis, Hepatomegaly, Hypertriglyceridemia, Short stature, Microno...	ORPHA:98907
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke...	ORPHA:33226
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat...	OMIM:618805
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Conj...	OMIM:617093
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Decrease...	ORPHA:353298
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Disproportionate short s...	ORPHA:1801
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Lethal Congenital Contracture Syndrome 8	Neonatal death, Death in infancy, Flexion contracture, Distal arthrogryposis	OMIM:616287
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	ORPHA:280365
Aicardi Syndrome	Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Multiple lipomas, Supernumerary ribs, B...	ORPHA:50
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Hypercholesterolemia, Postnatal growth retardation, Cryptorchidism, Intrauterine g...	ORPHA:96184
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Sca...	ORPHA:101330
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide...	OMIM:232200
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Intrauterine growth retardation	OMIM:301021
Aicardi Syndrome	Block vertebrae, Missing ribs, Postnatal growth retardation, Hiatus hernia, Rib fusion, Supernume...	OMIM:304050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Autosomal Recessive Robinow Syndrome	Ptosis, Epicanthus, Death in infancy, Inguinal hernia, Camptodactyly of finger, Pectus excavatum,...	ORPHA:1507
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Cardiomegaly, Synophrys, Hyperprol...	OMIM:619064
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Intrauterine growth retardation, Failure to thrive, Flexion contracture	OMIM:618237
Cat-Eye Syndrome	Downslanted palpebral fissures, Intrauterine growth retardation, Abnormal rib morphology, Short s...	ORPHA:195
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp...	ORPHA:79078
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Infantile Sialic Acid Storage Disease	Hepatomegaly, Epicanthus, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal tho...	OMIM:269920
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Jeune Syndrome	Abnormal clavicle morphology, Short stature, Short thorax, Abnormal rib morphology, Abnormal ster...	ORPHA:474
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Hypocholesterolemia, Ptosis	OMIM:610539
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Smith-Magenis Syndrome	Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Short stature	OMIM:182290
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Hepatomegaly, Elevated hepatic transaminase, Microvesicu...	OMIM:613070
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr...	OMIM:610198
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Short stature	ORPHA:1513
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Short thorax, Flexion contracture, Pe...	ORPHA:87876
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia, Short stature, Short clavicles, Highly arched eyebrow	ORPHA:401923
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ...	ORPHA:169105
Glycosylphosphatidylinositol Biosynthesis Defect 17	Growth delay, Hypertriglyceridemia	OMIM:618010
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal ...	ORPHA:567548
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Death in infancy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly,...	OMIM:201475
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia	OMIM:603278
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level	OMIM:619750
Mosaic Trisomy 14	Camptodactyly of finger, Cryptorchidism, Abnormal rib morphology, Narrow chest, Blepharophimosis,...	ORPHA:1703
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular c...	OMIM:232220
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Lateral clavicle hook, Splenomegaly, Cholestasis, Genu valgum, Bell-...	OMIM:615630
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Epicanthus, Highly arched eyebrow, Congenital diaphragmatic herni...	ORPHA:280
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Intrahepati...	OMIM:601847
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Pallister-Hall Syndrome	Decreased circulating cortisol level, Short stature, Cryptorchidism, Radial head subluxation, Rib...	OMIM:146510
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl...	OMIM:619127
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Generalized lipodystrophy, Panniculitis, ...	ORPHA:79086
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Short stature	ORPHA:2089
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti...	ORPHA:540
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo...	OMIM:209920
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Monosomy 13Q34	Hepatic steatosis, Epicanthus, Metrorrhagia, Hypercalcemia, Growth delay, Horizontal eyebrow, Ost...	ORPHA:96168
Stuve-Wiedemann Syndrome 2	Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Intrauterine growth retardation	OMIM:619751
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Short stature, Hepatocellular carcinoma, Hyperlipidemia, Irre...	ORPHA:79259
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Gout	OMIM:610947
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Mild postnatal growth retardation, Short stat...	ORPHA:168549
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Severe short stature, Highly arched eyebrow, Abnormality of the elbo...	ORPHA:2319
Microphthalmia, Syndromic 3	Vertebral fusion, Short stature, Hypogonadotropic hypogonadism, Missing ribs, Postnatal growth re...	OMIM:206900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs	OMIM:271520
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Exocrine pancreatic...	OMIM:620005
Roifman Syndrome	Hip contracture, Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Promine...	OMIM:616651
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Death in infancy, Hepatic steatosis, Hepatomegaly, Premature ovari...	OMIM:212065
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Ptosis	OMIM:614688
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level	ORPHA:343
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Inguinal hernia, Short stature, Missing ribs, Pectus excavatum, Cryptorchidism,...	OMIM:268310
Neuhauser Syndrome	Epicanthus, Genu recurvatum, Short stature, Genu valgum, Hypercholesterolemia, Downslanted palpeb...	OMIM:249310
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati...	ORPHA:1572
Galloway-Mowat Syndrome 7	Pectus excavatum, Cubitus valgus, Short stature, Hypercholesterolemia	OMIM:618348
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,...	ORPHA:90003
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Hemochromatosis, Type 1	Arthropathy, Hepatomegaly, Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Cardiome...	OMIM:235200
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Zttk Syndrome	Absent gallbladder, Epicanthus, Short stature, Craniosynostosis, Sparse eyebrow, Flexion contract...	OMIM:617140
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Elevated circulating creatine kina...	OMIM:608836
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Failure to thrive, Death in childhood	OMIM:614096
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Rib fusion, Craniosynostosis	ORPHA:261197
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Hepatomegaly, Rhizomelia, Abnormality of the elbow, Bell-shaped thorax, Severe...	ORPHA:1842
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:614921
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis...	ORPHA:99829
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Death in infancy, Elevated hepatic transaminase, Conjugated hyperbilirubinemia,...	OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A...	ORPHA:284
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Thin clavicles, Thin ribs, Growth delay, Hypocalcemic seizures, Hyp...	ORPHA:93324
Achondrogenesis Type 1B	Severe short stature, Femoral hernia, Short thorax, Abnormal rib morphology, Disproportionate sho...	ORPHA:93298
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Epicanthus, Hypertriglyceridemia, Microvesicular hepatic steatosi...	OMIM:619418
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Telecanthus, Jaundice, Neonatal death, Elevated circulating glutaric acid concentra...	OMIM:231680
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:608594
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin	ORPHA:890
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Increased circulating IgA level, Biliary...	ORPHA:2298
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Aspergillosis	Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia	ORPHA:1163
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Decreased serum zin...	ORPHA:541423
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Death in childhood...	OMIM:610333
Grant Syndrome	Joint dislocation, Short stature, Abnormal rib morphology, Narrow chest, Wormian bones, Sprengel ...	ORPHA:2097
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Hepatomegaly, Stillbirth, Decreased liver function, Death in childhood, Neonata...	OMIM:614922
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormal eyebrow morphology, Short stature, Absent eyelashes...	ORPHA:90153
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Ectropion	OMIM:275630
Fetal Akinesia Deformation Sequence 4	Neonatal death, Arthrogryposis multiplex congenita, Prenatal death, Camptodactyly	OMIM:618393
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,...	OMIM:261680
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy...	OMIM:208900
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomegaly, Thrombocytopen...	OMIM:610377
Aredyld Syndrome	Hepatomegaly, Short stature, Abnormal dental enamel morphology, Lipoatrophy, Splenomegaly, Upslan...	ORPHA:1133
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Abn...	ORPHA:298
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue	ORPHA:71529
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Synophrys, Upslanted palpebral fissure, Delayed puberty, Hyp...	ORPHA:819
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Ch...	OMIM:608104
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hepatomegaly, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Hyp...	ORPHA:1194
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Epicanthus, Short stature, Upslanted palpebral fissure, Intrauterine growth retarda...	ORPHA:50812
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Abnormality o...	ORPHA:1836
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Palpebral edema, Cryptorchidism, Jaund...	OMIM:214110
Fetal Gaucher Disease	Death in infancy, Hepatomegaly, Abnormality of the spleen, Splenomegaly, Flexion contracture, Sti...	ORPHA:85212
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Very long chain fatty acid accumulation,...	OMIM:261515
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal...	ORPHA:449395
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Splenomegaly, Abnormal rib morphology, Upslanted palpebral fissure, Intrauterine gro...	ORPHA:3035
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Intrauterine growth retardation, Abnormal rib morphology	ORPHA:1506
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hypertension, Sparse ey...	ORPHA:59303
Bardet-Biedl Syndrome 19	Hypogonadism, Hepatic steatosis	OMIM:615996
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Pectus excavatum, Hyperhomocystinemia, Pectus carinatum, Hypermethioninemia, Hep...	OMIM:236200
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot...	ORPHA:79330
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ...	ORPHA:254534
Cimdag Syndrome	Death in early adulthood, Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogona...	OMIM:619273
Cog1-Cdg	Rhizomelia, Postnatal growth retardation, Rib fusion, Posterior rib gap, Flat acetabular roof, He...	ORPHA:263508
Oculoskeletodental Syndrome	Hepatomegaly, Epicanthus, Short stature, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi...	OMIM:618440
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Renpenning Syndrome	Epicanthus, Severe short stature, Pectus excavatum, Abnormal rib morphology, Growth delay, Upslan...	ORPHA:3242
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera...	OMIM:256810
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Short stature, Hyperlipidemia, Generalized lipod...	ORPHA:90154
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation, Achilles tendon c...	OMIM:616263
Megalocornea-Intellectual Disability Syndrome	Epicanthus, Short stature, Hypercholesterolemia, Downslanted palpebral fissures, Genu varum	ORPHA:2479
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Rhizomelia, Short stature, Elevated circulating creatinine concent...	OMIM:614376
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Epicanthus, Accessory spleen, Short stature, Hi...	OMIM:194190
1P36 Deletion Syndrome	11 pairs of ribs, Abnormal eyebrow morphology, Epicanthus, Short stature, Camptodactyly of finger...	ORPHA:1606
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Arthrit...	OMIM:210250
Galactose Mutarotase Deficiency	Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function	ORPHA:570422
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes...	OMIM:226300
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Galactosemia I	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:230400
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Flexion contracture	OMIM:612138
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Failure to thrive	OMIM:242500
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ...	ORPHA:449563
Femoral-Facial Syndrome	Inguinal hernia, Short stature, Limited elbow movement, Missing ribs, Cryptorchidism, Humeroradia...	OMIM:134780
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Osteoarthritis, Hyperuricemia	ORPHA:77296
Cardiospondylocarpofacial Syndrome	Epicanthus, Telecanthus, Short stature, Tarsal synostosis, Congenital diaphragmatic hernia, Rib f...	OMIM:157800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
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	Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short stature, Cryptorchidism, Abnormal rib morphology, Pectus carinatum, Upslanted palpebral fis...	ORPHA:3082
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Thoracic scoliosis, Premature ovarian in...	ORPHA:2959
Isolated Thyroid-Stimulating Hormone Deficiency	Growth delay, Umbilical hernia, Prolonged neonatal jaundice, Macroorchidism, Hypercholesterolemia...	ORPHA:90674
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, Follicular hyperplasia, S...	OMIM:619381
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Short stature, Elevated circulating creatine kinase concentration	ORPHA:52430
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level	OMIM:617425
Nephrotic Syndrome, Type 1	Growth delay, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Abnormal rib morphology, Decreased fertility, Hypogonadism, Abnormality of the hum...	ORPHA:2234
Nemaline Myopathy 10	Neonatal death, Death in infancy, Congenital contracture, Flexion contracture	OMIM:616165
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Rauch-Steindl Syndrome	Hepatomegaly, Epicanthus, Telecanthus, Short stature, Miscarriage, Highly arched eyebrow, Postnat...	OMIM:619695
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ...	ORPHA:293978
Igg4-Related Thyroid Disease	Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Increased circulating IgG4...	ORPHA:64744
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Hepatomegaly, Upslanted palpebral fissure, Increased circulating very long-chai...	OMIM:614862
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Rhizomelia, Abnormal rib morphology, Narrow chest	ORPHA:93267
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Abnormal intrahepatic bile d...	ORPHA:363618
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Hepatomegaly, Short stature, Elevated circulating C-reactive protein concentrat...	OMIM:619423
Hypophosphatasia	Short stature, Hypercalcemia, Craniosynostosis, Abnormal rib morphology, Narrow chest	ORPHA:436
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Pectus excavatum, Abnormal rib morphology, Fused cer...	ORPHA:2522
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Abnormal rib morphology, Disproportionate short-limb short statu...	ORPHA:2772
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen...	OMIM:619487
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Thickened ribs, Splenomegaly, Synophrys, Umbilical hernia	OMIM:252900
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Epicanthus, Inguinal hernia, Pectus excavatum, Postnatal growth retardation, Flexion...	ORPHA:254528
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Growth delay, Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis	OMIM:231530
Baller-Gerold Syndrome	Bicoronal synostosis, Epicanthus, Severe short stature, Short stature, Limited elbow movement, Sa...	OMIM:218600
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn...	ORPHA:330015
Mednik Syndrome	Death in infancy, Cholestasis, Growth delay, Upslanted palpebral fissure, Hepatic fibrosis, Incre...	OMIM:609313
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Abnormal rib morphology, Long thorax, Narrow chest	ORPHA:2635
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Death in infancy, Death in childhood	OMIM:620265
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Q Fever	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn...	ORPHA:781
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, P...	ORPHA:93351
Kenny-Caffey Syndrome, Type 1	Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Thin cla...	OMIM:244460
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy	OMIM:617184
X-Linked Emery-Dreifuss Muscular Dystrophy	Scapular winging, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase conce...	ORPHA:98863
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Intrauterine growth reta...	OMIM:609981
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Abnormal rib morpholog...	ORPHA:2021
Emery-Dreifuss Muscular Dystrophy	Scapular winging, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase conce...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Scapular winging, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase conce...	ORPHA:98853
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Inguinal hernia	OMIM:619602
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Intrauterine growth retardation, Hyperammonemia, Death in infancy	OMIM:610678
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Gout, Xanthelasma, ...	OMIM:232240
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Xanthelasma, Hypertriglyceridemia, Hypercholesterolemia	OMIM:277460
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Abnormal rib morphology, Short stature	ORPHA:2578
Familial Multiple Lipomatosis	Hyperlipidemia, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil...	OMIM:211600
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal...	ORPHA:14
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology	ORPHA:2790
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea...	OMIM:242900
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:212138
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension...	ORPHA:465508
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli...	ORPHA:125
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Camptodactyly of finger, Elbow dislocation, Cryp...	ORPHA:628
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Delayed closure of t...	OMIM:614887
Thymoma	Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli...	ORPHA:99867
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,...	ORPHA:470
Schimke Immuno-Osseous Dysplasia	Short stature, Hyperlipidemia, Disproportionate short-trunk short stature, Growth delay, Intraute...	ORPHA:1830
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation	OMIM:618541
Phaver Syndrome	Epicanthus, Camptodactyly of finger, Abnormal rib morphology, Radioulnar synostosis, Intrauterine...	ORPHA:2876
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Death in infancy, Epicanthus, Hepatomegaly, Elevated circulating c...	OMIM:614576
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy...	ORPHA:77261
Cole-Carpenter Syndrome 2	Wide cranial sutures, Short stature, Pectus excavatum, Postnatal growth retardation, Thin ribs, L...	OMIM:616294
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Very long chain...	ORPHA:98908
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Scapular winging, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase conce...	ORPHA:98855
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Cholelithiasis, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubine...	OMIM:266200
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Bloom Syndrome	Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev...	OMIM:210900
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased circulating total I...	ORPHA:183675
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Camptodactyly of finger, Missing ribs	ORPHA:1759
Seckel Syndrome 10	Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated...	OMIM:617253
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Missing rib...	ORPHA:1834
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Small for gestational age	OMIM:610498
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Long clavicles, Splenomegaly, Flexion contracture, Th...	OMIM:608149
Adrenomyodystrophy	Hepatic steatosis, Short stature	ORPHA:977
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia, Lymphadenopathy	ORPHA:2905
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia, Neonatal death	OMIM:618810
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Combined Deficiency Of Factor V And Factor Viii	Menorrhagia, Hyperlipidemia, Joint hemorrhage, Hyperuricemia	ORPHA:35909
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Hyper...	ORPHA:77293
Heme Oxygenase 1 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614034
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy...	OMIM:235555
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE...	ORPHA:37042
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Abnormal rib morph...	OMIM:118450
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Hypoplasia of eyelid, Flexion contracture, Genu valgum, Hypoplasia of the ovary, A...	OMIM:619321
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Short stature, Hypogonadotropic hypogonadism, Abnormal rib morphology, Pectus carinatum, Downslan...	ORPHA:3068
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Intrauterine growth retardation, Abnormal rib morphology, Short stature	ORPHA:2145
Gm1-Gangliosidosis, Type I	Hepatomegaly, Death in infancy, Severe short stature, Thickened ribs, Inguinal hernia, Splenomega...	OMIM:230500
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Robinow Syndrome	Fused thoracic vertebrae, Short stature, Missing ribs, Cryptorchidism, Rib fusion, Umbilical hernia	ORPHA:97360
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp...	OMIM:301074
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Cardiomyopathy, Familial Restrictive, 6	Death in infancy, Ascites, Portal vein hypoplasia, Hepatomegaly	OMIM:619433
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal r...	ORPHA:1488
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Abnormal thorax morpho...	ORPHA:73230
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Growth delay, Death in childhood, Neonatal death, Intrauterine growth retardati...	OMIM:245400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancr...	ORPHA:1655
Wolman Disease	Hepatomegaly, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic failure	ORPHA:75233
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Synophrys	OMIM:252920
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy...	OMIM:242840
Xylt1-Cdg	Joint dislocation, Hepatomegaly, Short stature, Synophrys, Growth delay, Short clavicles, Broad ribs	ORPHA:370930
Glycogen Storage Disease Xii	Hepatomegaly, Epicanthus, Short stature, Elevated circulating creatine kinase concentration, Sple...	OMIM:611881
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N...	ORPHA:348
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Epicanthus, Camptodactyly of finger, Delayed closure of the anterior fontanelle...	OMIM:607872
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Hyponatremia, Death in infancy, Short stature, Abnormal dental enamel morphology, ...	ORPHA:534
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Bilateral crypto...	ORPHA:66634
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
H Syndrome	Abnormal eyebrow morphology, Hypertriglyceridemia, Short stature, Lipodystrophy, Upper eyelid ede...	ORPHA:168569
Shwachman-Diamond Syndrome 2	Death in infancy, Hepatomegaly, Short stature, Anterior rib cupping, Exocrine pancreatic insuffic...	OMIM:617941
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Sagittal craniosynostosis, P...	OMIM:610199
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227990
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Short stature, Portal hypertension, Pectus excava...	OMIM:613658
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased serum iron, Chronic hepatitis, Cirrhosis, Intrauterine growth retardation	OMIM:614602
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Intrauterine growth retardation	OMIM:619003
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Thickened ribs, Splenomegaly, Synophrys, Hernia	OMIM:252930
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Epicanthus, Proportionate short stature, Sagittal craniosynostosis, Sparse ey...	ORPHA:500150
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Decreased circulatin...	OMIM:615688
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Epicanthus, Severe short stature, Short stature, Spatulate ribs, Pectus excavatum, ...	OMIM:253220
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Sprengel anomaly, Abnormal rib morphology, Short stature	OMIM:601076
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Abnormal m...	ORPHA:367
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Postnatal growth retardation, E...	ORPHA:699
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Microvesicular hepatic steatosis, Death in child...	OMIM:611126
Gracile Bone Dysplasia	Death in infancy, Short stature, Asplenia, Thin ribs, Hypocalcemia, Hypoplastic spleen, Ascites	OMIM:602361
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,...	ORPHA:51636
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Flexion contracture, Growth delay, Intrauterine growth retardation, Hepatic steatosis	OMIM:616271
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Cole-Carpenter Syndrome	Short stature, Abnormal dental enamel morphology, Abnormal rib morphology, Wormian bones, Intraut...	ORPHA:2050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Epicanthus, Hypoplastic scapulae, Inguinal hernia, Splenomegaly, Short...	OMIM:269860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:615356
3Mc Syndrome	Ptosis, Telecanthus, Craniosynostosis, Highly arched eyebrow, Postnatal growth retardation, Bilat...	ORPHA:293843
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Hepatomegaly, Conjugated h...	OMIM:613404
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum...	OMIM:224690
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis	OMIM:618398
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Narrow chest, Hepatomegaly, Short stature, Rhizomelia, Sparse eye...	OMIM:613610
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Decreased proportion of CD4-positive helper T cells,...	ORPHA:289390
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level...	ORPHA:85443
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Turner Syndrome Due To Structural X Chromosome Anomalies	Enlarged thorax, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficiency, Short stat...	ORPHA:99413
Mosaic Monosomy X	Enlarged thorax, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficiency, Short stat...	ORPHA:99228
Monosomy X	Enlarged thorax, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficiency, Short stat...	ORPHA:99226
Turner Syndrome	Enlarged thorax, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficiency, Short stat...	ORPHA:881
Microphthalmia, Syndromic 12	Neonatal death, Congenital diaphragmatic hernia	OMIM:615524
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Polycystic liver disease, Short stature, Pancreatic fibrosis, Lateral clavicle ...	OMIM:208500
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227982
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol...	OMIM:607626
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Congenital hip dislocation, Limb joint contracture, ...	ORPHA:404454
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Alagille Syndrome	Hepatomegaly, Cryptorchidism, Abnormal rib morphology, Cholestasis, Reduced number of intrahepati...	ORPHA:52
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Hepatomegaly, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Crypt...	OMIM:235255
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	OMIM:619573
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
White Forelock With Malformations	Epicanthus, Sprengel anomaly, Abnormal rib morphology	ORPHA:2475
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ...	OMIM:619991
Trisomy 13	Abnormal eyelash morphology, Cryptorchidism, Abnormal rib morphology, Narrow chest, Hernia, Intra...	ORPHA:3378
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Gout, Hyperproteinemia, Increased circulating renin level, Hy...	ORPHA:90041
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ...	ORPHA:2345
Ogden Syndrome	Congenital hip dislocation, Abnormal eyelid morphology, Cardiomegaly, Microvesicular hepatic stea...	OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Joint contracture of the 5th finger, Intrauterine growth retardation, Hepatic steatos...	OMIM:619934
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Inguinal hernia, Ulnar deviation of the wrist, Grayish enamel, Disproportionate sho...	OMIM:253000
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Synophrys, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibros...	OMIM:606003
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Arthrogryposis Multiplex Congenita 6	Neonatal death, Arthrogryposis multiplex congenita, Death in childhood, Death in infancy	OMIM:619334
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Short stature, Anterior rib cupping, Enlargement of ...	OMIM:260400
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Short stature, Rhizomelia, Thin ribs...	OMIM:613848
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Hepatomegaly, Short stature, Camptodactyly of fin...	ORPHA:93473
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Joint swelling...	OMIM:612852
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Fanconi Anemia, Complementation Group O	Neonatal death, Death in infancy, Miscarriage, Short stature	OMIM:613390
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circulating total IgM, B l...	ORPHA:83617
Mucolipidosis Iii Alpha/Beta	Short stature, Increased serum beta-hexosaminidase, Craniosynostosis, Irregular carpal bones, Sho...	OMIM:252600
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Death in childhood, Hepa...	OMIM:602579
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Ventral hernia, Thoracic scoliosis, Hypertriglyceridemia, Widened atrophic sca...	ORPHA:536532
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Downslanted palpebral fissures, Epicanthus, Abnormal rib morphology, Missing ribs	ORPHA:2759
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Severe short stature, Inguinal hernia, Camptodactyly of finger, Pectus e...	ORPHA:2215
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia	ORPHA:90065
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Flexion contracture, Growth ...	ORPHA:17
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Pallister-Hall Syndrome	Inguinal hernia, Short stature, Cryptorchidism, Radial head subluxation, Rib fusion, Hip dislocat...	ORPHA:672
Cenani-Lenz Syndrome	Ptosis, Ectropion, Abnormal dental enamel morphology, Elbow dislocation, Abnormal rib morphology,...	ORPHA:3258
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Hepatic fibrosis, Neonatal deat...	OMIM:619534
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Cryptorchidism, Abnorm...	ORPHA:1647
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Barrel-shaped chest, Hepatomegaly, Short stature, Reduced pancreatic beta cells, Irregular carpal...	OMIM:226980
Campomelia, Cumming Type	Death in infancy, Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Abnormal thorax mo...	ORPHA:1318
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Melnick-Needles Syndrome	Omphalocele, Short stature, Short thorax, Abnormal rib morphology, Hip dislocation, Narrow chest,...	ORPHA:2484
Atypical Werner Syndrome	Hypertriglyceridemia, Short stature, Premature ovarian insufficiency, Lipoatrophy, Abnormal thora...	ORPHA:79474
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Joint swelling...	ORPHA:85414
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant...	ORPHA:3132
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size	OMIM:610644
Riddle Syndrome	Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De...	ORPHA:420741
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Cardiomegaly, Death in childhood, Hepatomegaly, Thoracolumba...	OMIM:252500
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, ...	ORPHA:1667
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Hepatomegaly, Microvesicular hepatic steatosis, Flexion contra...	OMIM:300868
Mucopolysaccharidosis Type 4	Joint dislocation, Short stature, Abnormal dental enamel morphology, Grayish enamel, Short thorax...	ORPHA:582
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple...	OMIM:615846
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Copper accumulation in liver, Growth delay, Death in childhood, Increased hepat...	OMIM:614946
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Lethal Congenital Contracture Syndrome Type 1	Abnormality of the elbow, Abnormal rib morphology, Short stature	ORPHA:1486
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Cryptorchidism, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Greenberg Dysplasia	Beaded ribs, Narrow chest, Neonatal death, Barrel-shaped chest, Hepatomegaly, Sternal punctate ca...	OMIM:215140
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Small for gestational age, Growth delay, Death in childhood, Neonatal death, Umb...	OMIM:614052
3-Methylglutaconic Aciduria Type 7	Growth delay, Hepatic steatosis, Elevated hepatic transaminase	ORPHA:445038
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an...	ORPHA:91500
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Bilateral cryptorchidism, Male hypogonadism, Hypercholesterolemia,...	OMIM:619471
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Medias...	OMIM:181000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Death in child...	OMIM:220110
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a...	ORPHA:391487
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, I...	ORPHA:565612
Faciocardiomelic Dysplasia, Lethal	Neonatal death, Small for gestational age	OMIM:227270
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ...	OMIM:207800
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly	ORPHA:79292
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Hyperlipidemia, Hydrocele testis, Hypoalbuminemia, Ascites	ORPHA:567546
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Ptosis	ORPHA:436271
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In...	OMIM:619377
Smith-Lemli-Opitz Syndrome	Death in infancy, Epicanthus, Hepatomegaly, Short stature, Splenomegaly, Cryptorchidism, Hip disl...	OMIM:270400
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ...	ORPHA:30391
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased circulating ferritin concen...	OMIM:194380
Porphyria, Congenital Erythropoietic	Absent eyebrow, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Loss of eyelashes, Corneal s...	OMIM:263700
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, C...	OMIM:124000
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia	OMIM:210200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Asplenia, Posterior rib fusion, Neonatal death, Annular pancreas, Right ventricular ...	OMIM:265380
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Arthrogryposis multiplex congenita, Stillbirth, Hydranencephaly	OMIM:236500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis	OMIM:619183
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia	OMIM:619769
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Antley-Bixler Syndrome	Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Downslanted palpebral fissure...	ORPHA:83
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Pectus carinatum, Wrist flexion contracture, ...	ORPHA:800
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Intrauterine growth retardation, Obesity	ORPHA:254525
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Decreased liver...	OMIM:618329
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio...	ORPHA:57777
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Streak ovary, Hyperlipidemia, Growth delay, Abnormal spermatogen...	ORPHA:3464
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Trisomy 1Q	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Short thor...	ORPHA:261344
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death	OMIM:601612
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Splenomegaly, Bell-shaped thorax, Disproportionate short-limb short stature, Short ...	OMIM:602557
Scleromyxedema	Paraproteinemia	ORPHA:167635
Werner Syndrome	Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Elevated circulating aspartate amin...	OMIM:277700
Vacterl/Vater Association	Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the pancreas, Abnorm...	ORPHA:887
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas	OMIM:618162
Holzgreve Syndrome	Intrauterine growth retardation, Abnormal mesentery morphology, Abnormal rib morphology	ORPHA:2167
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati...	OMIM:615415
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology	ORPHA:93941
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Epicanthus, Pancreatic fibrosis, Craniosynostosis, Upslanted palpebral...	OMIM:200995
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Thin ribs, Short sternum, Short ribs, Hypoplastic acetabulae, Intrauterine growth r...	OMIM:620076
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ...	ORPHA:2970
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Fetal ascites, Synophrys, Multiple joint dislocation, Flexion contr...	OMIM:619503
Myhre Syndrome	Inguinal hernia, Severe short stature, Femoral hernia, Cryptorchidism, Abnormal rib morphology, H...	ORPHA:2588
Arima Syndrome	Hepatomegaly, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Ptosis	OMIM:243910
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sprengel anomaly, Abnormal rib morphology, Abnormal dental enamel morphology	ORPHA:2180
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Ptosis	OMIM:617575
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Narrow chest, Hepatoblastoma, Hepatomegaly, Short stature, Interphalangeal j...	ORPHA:96334
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic steatosis, Chronic hepat...	ORPHA:746
Cardiomyopathy, Dilated, 2H	Neonatal death	OMIM:620203
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru...	OMIM:229600
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Lymphatic Malformation 12	Neonatal death, Inguinal hernia, Death in adolescence	OMIM:620014
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L...	ORPHA:99826
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ...	ORPHA:20
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Entropion, Short stature, Camptodactyly of finger, Hypertrig...	ORPHA:3455
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroi...	ORPHA:89936
Transketolase Deficiency	Hepatomegaly, Proportionate short stature, Secondary amenorrhea, Conjunctivitis, Elevated circula...	ORPHA:488618
Fabry Disease	Conjunctival telangiectasia, Short stature, Hyperlipidemia, Arthritis, Delayed puberty, Left vent...	ORPHA:324
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ...	ORPHA:392
Cartilage-Hair Hypoplasia	Hepatomegaly, Epicanthus, Rhizomelia, Flaring of lower rib cage, Sparse eyebrow, Abnormality of t...	ORPHA:175
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Flexion contracture, Narrow chest, Abnormality of the wrist...	ORPHA:95699
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Small for gestational age, Death in adolescence, Death in childhood, Neonatal d...	OMIM:619055
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Boomerang Dysplasia	Neonatal death, Severe short stature	OMIM:112310
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Cranioectodermal Dysplasia 1	Hepatomegaly, Epicanthus, Telecanthus, Rhizomelia, Inguinal hernia, Sagittal craniosynostosis, Ma...	OMIM:218330
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Occipital encephalocele, Severe short stature, Disproportionate short-limb short ...	OMIM:224410
Larsen-Like Syndrome, Lethal Type	Neonatal death	OMIM:245650
Abcd Syndrome	Neonatal death, Large for gestational age	OMIM:600501
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Short stature, Hypophosphatemia	OMIM:616026
Poland Syndrome	Aplasia/Hypoplasia of the sternum, Missing ribs, Retinal hamartoma, Cryptorchidism, Congenital di...	ORPHA:2911
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Increased circulating antibody level...	ORPHA:355
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Hyperbilirubinemia, Prolonged neon...	OMIM:224120
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Trisomy 18	Omphalocele, Epicanthus, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:3380
Dubowitz Syndrome	Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula...	OMIM:223370
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Abnormal rib morphology, Congenital diaphragmatic hernia	ORPHA:1120
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Lethal Congenital Contracture Syndrome 1	Neonatal death, Arthrogryposis multiplex congenita	OMIM:253310
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Aplasia of the epiglottis, Short ribs, Nar...	OMIM:617088
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Intrauterine growth retardation, Death in infancy	OMIM:618835
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Broad eyebrow, Palpebral edema, Abnormal abdomen morphology, Synop...	OMIM:619475
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Intrauterine growth retardation, Death in infancy	OMIM:618839
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Cleidocranial Dysplasia	Hypoplastic scapulae, Short stature, Down-sloping shoulders, Abnormal dental enamel morphology, A...	ORPHA:1452
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology...	ORPHA:96061
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab...	OMIM:118100
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of the ovary...	ORPHA:66628
Autosomal Dominant Popliteal Pterygium Syndrome	Cryptorchidism, Abnormal rib morphology, Nonketotic hyperglycinemia, Ankyloblepharon, Popliteal p...	ORPHA:1300
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated ci...	OMIM:276700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Bilateral ptosis, Decreased fertil...	ORPHA:273
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Epicanthus, Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Digeorge Syndrome	Inguinal hernia, Short stature, Femoral hernia, Splenomegaly, Hydrocele testis, Umbilical hernia,...	OMIM:188400
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of the ovary...	ORPHA:179494
Trichinellosis	Increased circulating IgE level	ORPHA:863
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Death in infancy, Short stature, Congenital diaphragma...	ORPHA:991
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Narrow chest, Genu varum, Absent eyebrow, Short stature, Absent eyelashes, S...	OMIM:264090
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Simpson-Golabi-Behmel Syndrome	Omphalocele, Vertebral fusion, Epicanthus, Congenital hip dislocation, Death in infancy, Camptoda...	ORPHA:373
Postinfectious Vasculitis	Viral hepatitis, Increased circulating IgA level, Abnormality of humoral immunity, Increased circ...	ORPHA:48435
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Postnatal growth retardation, Cryptorchidism, Umbilical hernia, Shall...	ORPHA:96191
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Afibrinogenemia, Congenital	Neonatal death, Death in infancy, Death in adolescence, Death in childhood	OMIM:202400
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death	OMIM:602199
Smith-Lemli-Opitz Syndrome	Epicanthus, Rhizomelia, Short stature, Abnormal dental enamel morphology, Congenital diaphragmati...	ORPHA:818
Monosomy 9P	Epicanthus, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Synophrys, Ab...	ORPHA:261112
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97278
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Ectr...	ORPHA:31150
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Xp21 Deletion Syndrome	Growth delay, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ...	ORPHA:261476
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci...	OMIM:619472
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Otopalatodigital Syndrome Type 2	Omphalocele, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Abnormal rib morpholo...	ORPHA:90652
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Hyperuricemia, Thick...	ORPHA:2769
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97283
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Craniosynostosis, Splenomegaly, Abnormal rib morphology, Growth delay, Hypocalcemia...	ORPHA:667
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Death in infancy, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcem...	OMIM:618183
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperkalemia, Delayed...	ORPHA:293987
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H...	OMIM:241080
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Failure to thrive	OMIM:265120
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death	OMIM:619817
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Short stature, Hypercalcemia, Testicular neoplasm, Abnormal rib mor...	ORPHA:249
Monosomy 9Q22.3	Epicanthus, Pectus excavatum, Abnormal rib morphology, Metopic synostosis, Umbilical hernia, Down...	ORPHA:77301
Ear-Patella-Short Stature Syndrome	Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca...	ORPHA:2554
Alström Syndrome	Thoracic scoliosis, Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepatome...	ORPHA:64
Dextrocardia	Congenital hip dislocation, Abnormality of the spleen, Abnormal rib morphology, Abnormality of ab...	ORPHA:1666
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Abnormal hemoglobin, Anemia	ORPHA:847
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Synophry...	ORPHA:581
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Glycerol Kinase Deficiency	Hypertriglyceridemia, Short stature, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Gro...	OMIM:307030
Osteogenesis Imperfecta	Osteoarthritis, Flexion contracture, Pectus carinatum, Narrow chest, Dislocated radial head, Shor...	ORPHA:666
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Inguinal hernia, Highly arched eyebrow, Microvesicular hepatic steatosis, Hyper...	OMIM:220111
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Abnormal rib morphology, Missing ribs	ORPHA:3301
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal scapula morphology, Disproportionate short stature, Abnormal rib morphology, Rhizomelic ...	ORPHA:93317
Hereditary Acrokeratotic Poikiloderma	Short stature, Camptodactyly of finger, Abnormal rib morphology, Keratoconjunctivitis, Ectropion	ORPHA:2907
Radio-Renal Syndrome	Abnormality of the elbow, Severe short stature, Abnormal rib morphology	ORPHA:3015
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Death in childhood, Hepatomegaly, ...	OMIM:243800
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:167
Charge Syndrome	Epicanthus, Short stature, Hypogonadotropic hypogonadism, Highly arched eyebrow, Postnatal growth...	ORPHA:138
Neu-Laxova Syndrome 1	Hydranencephaly, Spina bifida, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth...	OMIM:256520
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Abnormal rib morphology, Symblepharon, Thick eyebrow	ORPHA:488434
Ulbright-Hodes Syndrome	Postnatal growth retardation, Cryptorchidism, Humeroradial synostosis, Abnormal rib morphology, T...	ORPHA:3404
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contracture, Abnormal rib mor...	ORPHA:2908
Meacham Syndrome	Death in infancy, Aplasia of the right hemidiaphragm, Stillbirth, Aplasia of the left hemidiaphra...	OMIM:608978
Restrictive Dermopathy 1	Limb joint contracture, Flexion contracture, Hydropic placenta, Stillbirth, Short umbilical cord,...	OMIM:275210
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Death in infancy, Failure to thrive, Growth delay	OMIM:617248
Charge Syndrome	Omphalocele, Hypogonadotropic hypogonadism, Down-sloping shoulders, Postnatal growth retardation,...	OMIM:214800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death	OMIM:619362
Vater/Vacterl Association	Postnatal growth retardation, Abnormal rib morphology, Abnormal sternum morphology, Radioulnar sy...	OMIM:192350
Sacral Agenesis With Vertebral Anomalies	Neonatal death	OMIM:615709
Townes-Brocks Syndrome	Short stature, Blepharophimosis, Cryptorchidism, Abnormal rib morphology, Delayed puberty, Limbal...	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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

X-ray

DSS Histology

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 20.1 Data