banner
Genes Phenotypes Help, News, Blog

Gene: Itpkb MGI:109235

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inositol 1,4,5-trisphosphate 3-kinase B
Synonyms:
E130307H12Rik,  1110033J02Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Itpkb mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Immunodeficiency 48
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Recurr... OMIM:269840
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
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 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Feeding difficulti... OMIM:617241
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Diarrhea, Increased circulating IgE level, Recurrent upper... ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Anorexia, Diarrhea, Recurrent pneumonia, Recurrent c... ORPHA:169160
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... ORPHA:331235
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Villous atrophy, Chronic diarr... OMIM:619510
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurren... OMIM:615592
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro... OMIM:615767
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of... OMIM:607594
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Decrease... OMIM:615607
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Perianal abscess, Diarrhea, Decreased circulating an... OMIM:618108
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency 104
Splenomegaly, Diarrhea, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Ly... OMIM:608971
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... OMIM:614069
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Grow... ORPHA:169079
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Chronic di... OMIM:619281
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Recurrent opportunistic infections, Diarrhea, T lymphocytopenia, B lymphocytopenia, F... OMIM:601457
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Hepatosplenomegaly, Increased propo... OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Short stature, Persistent CMV viremia, Splenomegaly, Chronic dia... OMIM:616005
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Ly... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 44
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... OMIM:616636
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thro... OMIM:616100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Recurrent infecti... OMIM:615285
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytop... OMIM:619164
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Chro... OMIM:616740
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Malabsorption, Diarrhea, Sepsis, De... ORPHA:33355
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Short stature, Neutropenia OMIM:610798
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... OMIM:614102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 19
Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab... OMIM:615617
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... ORPHA:83471
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... ORPHA:217390
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Malabsorptio... OMIM:209920
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... OMIM:301000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Decreased proportion of class-switched memory B cells, Decreased circulating to... OMIM:617765
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Severe cytom... OMIM:617638
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Immunodeficiency 40
Rectal fistula, Severe varicella zoster infection, Chronic diarrhea, Recurrent pneumonia, Eosinop... OMIM:616433
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Chronic... OMIM:242700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative coli... OMIM:618394
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Decreased circulating antibody level, Hepatosplenomegaly, Recu... OMIM:618261
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... OMIM:137100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... OMIM:620210
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, D... OMIM:229050
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Sepsis,... ORPHA:319218
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Short stature, Ataxia, Abdominal pain, Celiac disease, Postnatal gro... OMIM:212750
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Immunodeficiency 22
Abscess, Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Anemia, Dec... OMIM:615758
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Alopecia, Dysgammaglobulinemia, Malabsorption, Abdominal pai... ORPHA:100025
Wolman Disease
Nausea and vomiting, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Malnutrition, Es... ORPHA:75233
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... OMIM:602450
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, Leukocytosis, Chronic diarrhea, BCGosis, Decreased... OMIM:619652
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Short stature, Reduced natural killer cell activity, Feeding diffi... OMIM:616050
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Growth delay, Decreased circul... OMIM:619774
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Increased ci... OMIM:209950
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Leukocytosis, Decreased circulating ant... OMIM:243150
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Trachyonychia, Decreased response to... OMIM:615577
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Chronic decreas... OMIM:300953
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... OMIM:615559
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulating antibody l... OMIM:226300
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Sepsis, Inflammation of the lar... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Malabsorption, Protruding tongue, Diarrhea, Macroglossia, T lymphocytopenia, Incre... OMIM:242860
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre... OMIM:608106
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... ORPHA:90045
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p... OMIM:601495
Athyreosis
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipati... ORPHA:95713
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... ORPHA:1201
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decr... OMIM:619705
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Short stature, Decrease... OMIM:307200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Chronic diarrh... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:601859
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Nail dystrophy, Abnormally low T... OMIM:618806
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Decreased specific pneumococ... OMIM:617006
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormali... ORPHA:2585
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Malabsorption, Abdominal distention, Gastr... OMIM:613662
Activated Pi3K-Delta Syndrome
Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating ant... ORPHA:397596
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo... OMIM:614470
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Severe short stature, Decreased circulating total IgM, Neutrope... ORPHA:2643
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen... OMIM:615190
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Disseminated histoplasmosis, Recurrent vulvovaginal ... OMIM:614162
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Abdominal pain... ORPHA:90362
Schimke Immuno-Osseous Dysplasia
Short stature, Impaired T cell function, Abnormality of thyroid physiology, Abnormal lymphocyte p... ORPHA:1830
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Abnormal fingernail morphology, Anorexia, Malabsorption, Abdomina... ORPHA:2930
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis ORPHA:313906
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia Antibody Deficiency
Recurrent respiratory infections, Short stature, Abnormal eyelash morphology, Decreased circulati... ORPHA:1006
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Chronic diarrhea... OMIM:618523
Ataxia-Telangiectasia
Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG level, Sh... OMIM:208900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Alopecia, Re... OMIM:616576
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,... ORPHA:51890
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decre... OMIM:275350
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Disproporti... OMIM:242900
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Abdo... ORPHA:436252
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Gastroesophageal reflux, Ataxia, Recurrent ear infections, Decreased ... ORPHA:221139
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lym... OMIM:603909
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Eosinophilia, Increased circulating IgE level, Recurr... OMIM:618282
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Boutonneuse Fever
Abdominal pain, Diarrhea, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circul... ORPHA:83313
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Malabsorption, Diarrhea, Sepsis, Recurrent infections, Agammagl... ORPHA:33110
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Severe in... OMIM:304790
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Recurre... OMIM:618048
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Decreased circulating antibody level, Growth delay, Feeding difficulties, Intraute... OMIM:617744
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Anemia, Decreased... OMIM:613101
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Cryptorchidism, Anemia, Protein-losing enteropathy, Vomiting, Dec... OMIM:608104
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Increased circulating IgE level, Recurrent upper respiratory tra... OMIM:619752
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Rabies
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia ORPHA:770
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Abdominal pain, Leukocytosis, Chronic diarrhea, Di... OMIM:617099
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Synophrys, Unsteady gait, Decreased circulating total IgM, Decreased circulating IgG leve... OMIM:300861
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Short stature, Abnormali... ORPHA:229717
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Microcytic anemia, Feedi... OMIM:257200
Lymphangiectasia, Intestinal
Lymphopenia, Malabsorption, Abnormal hair morphology, Intestinal lymphangiectasia, Decreased circ... OMIM:152800
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Impaired T cell function, Poor appetite, Ataxia, Splenomegaly, Diarrhea, Paronychi... OMIM:201100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Alopecia, Abdominal pain, Abdominal distention, Diarrh... ORPHA:93552
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, BCGosis, Hepatosplenomegaly, Thrombocytosis, ... OMIM:618963
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal di... ORPHA:100924
Lead Poisoning
Anorexia, Abdominal pain, Abdominal distention, Increased circulating IgE level, Imbalanced hemog... ORPHA:330015
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Short stature, Malabsorption, Thrombocytopenia, ... ORPHA:47
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Decreased circulating antibody level, Lymphopenia, Malabsorption ORPHA:1116
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... ORPHA:2688
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... ORPHA:401911
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Xq28 (MECP2) duplication
Recurrent respiratory infections, Feeding difficulties in infancy, Inability to walk, Gait ataxia... DECIPHER:45
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Short stature, Rhizomelia, Decreased circulating antibody level... OMIM:618116
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased liver function, Dec... OMIM:301045
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Brittle hair, Short stature, Increased circulating IgA level, Bilateral cryptorchidi... OMIM:616395
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulat... OMIM:300635
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Increased hepatitis B virus antibody level, Neoplasm of the... ORPHA:90003
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Necrotizing Enterocolitis
Neonatal sepsis, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, Vomi... ORPHA:391673
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Dyskeratosis Congenita, Digenic
Decreased testicular size, Alopecia, Short stature, Sparse eyelashes, Recurrent infections, Decre... OMIM:620040
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Celiac disease, Postnatal growth retardation, Increased circulating IgE level, Thy... OMIM:618985
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Cartilage-Hair Hypoplasia
Sparse facial hair, Susceptibility to chickenpox, Neutropenia, Sparse hair, Neonatal short-limb s... OMIM:250250
Bloom Syndrome
Recurrent herpes, Poor appetite, Severe varicella zoster infection, Paronychia, Gastroesophageal ... ORPHA:125
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocytosis, Chroni... OMIM:260920
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Recurrent respiratory infections, Increased circulating IgA level,... OMIM:615934
Sepsis In Premature Infants
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... ORPHA:90051
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Long eyelashe... OMIM:616069
Ataxia-Telangiectasia
Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Ataxia, Decreased circ... ORPHA:100
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Celiac disease, Recurren... OMIM:615952
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Angiostrongyliasis
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop... ORPHA:74
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Thyroid Hemiagenesis
Growth delay, Macroglossia, Constipation, Abdominal distention ORPHA:95719
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth d... ORPHA:3363
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... ORPHA:209964
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Malabsorption, Hypersplenism, Thrombocytopen... ORPHA:98850
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... OMIM:615122
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Throm... OMIM:603554
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Griscelli Syndrome
Abnormal eyebrow morphology, Short stature, Ataxia, Abnormality of neutrophils, Abnormal eyelash ... ORPHA:381
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Sparse hair, Nail dystrophy, Recurren... OMIM:618625
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Decreased response to growth hormone stimulation test, Long eyebr... OMIM:275400
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Ataxia, Abscess, Eosinophilia, Recurrent stap... OMIM:615816
Qazi-Markouizos Syndrome
Cryptorchidism, High, narrow palate, Abdominal distention, Recurrent infections, Chronic constipa... ORPHA:3010
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Short stature, Aut... ORPHA:391487
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Bone marrow hypoce... OMIM:619767
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... OMIM:615207
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic diarrhea, Recurrent pneumonia, Recurr... OMIM:614379
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow OMIM:606242
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Immunodeficiency 12
Short stature, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte co... OMIM:615468
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Curly hair, Cryptorchidism, Gait disturbance, Protuberant abdomen, Intestina... ORPHA:457485
Spondylocostal Dysostosis 1, Autosomal Recessive
Recurrent respiratory infections, Severe short stature, Short stature, Abdominal distention, Disp... OMIM:277300
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... ORPHA:90363
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Severe infection, Choreoathetosis, Increased circulating IgG level, Steppage gait, ... ORPHA:206594
Cog7-Cdg
Postnatal growth retardation, Diarrhea, Feeding difficulties, Recurrent infections, Hepatosplenom... ORPHA:79333
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia ORPHA:100024
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg... ORPHA:388
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Hirsutism, Sepsis, Anemia, Recurrent ba... OMIM:617475
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Feeding difficulties, Ataxia, Intermittent diarrhea OMIM:620270
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Congenital hypothyroidism, Macroglossia, C... ORPHA:226313
Cog4-Cdg
Neonatal sepsis, Fatal liver failure in infancy, Ataxia, Thick hair, Recurrent upper respiratory ... ORPHA:263501
Roifman Syndrome
Short stature, Eosinophilia, Hyperconvex nail, Postnatal growth retardation, Recurrent pneumonia,... ORPHA:353298
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Dia... OMIM:278000
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Increased circulatin... ORPHA:343
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Neoplasm of the pancreas, Testicular neoplasm, Abdominal pain, Abdominal dis... ORPHA:83469
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Abdominal pain, Leukocyto... ORPHA:2070
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Inability to walk,... ORPHA:508533
Trichohepatoenteric Syndrome 2
Villous atrophy, Brittle hair, Woolly hair, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... OMIM:614602
Nephrotic Syndrome, Type 1
Pyloric stenosis, Abdominal distention, Recurrent infections, Growth delay, Gastroesophageal refl... OMIM:256300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Mevalonic Aciduria
Normocytic hypoplastic anemia, Short stature, Ataxia, Fluctuating splenomegaly, Leukocytosis, Dia... OMIM:610377
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Ataxia, Esophageal varix, Growth delay, Premature gray... OMIM:617341
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Hepatoblastoma... ORPHA:84064
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption OMIM:606824
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Secretory diarrhea, Sepsis, Iron deficiency anemia, Colitis, Vomiting, Neutropenia, Hypothyroidis... ORPHA:37042
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Dysmetria, Gait ataxia, Meningitis, Abnormal propor... ORPHA:217260
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Acrocephalopolydactyly
Protuberant abdomen, Hepatosplenomegaly ORPHA:221054
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Chylomicron Retention Disease
Acanthocytosis, Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsor... ORPHA:71
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Short stature, Trichoschisis, Malabsorption, Chronic diarrh... OMIM:601675
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Vomiting, Decreased... OMIM:613070
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Hepatocellular carcinoma, Abdominal distention, Growth delay, Delayed puberty ORPHA:369
Immunodeficiency 68
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor... OMIM:612260
Donohue Syndrome
Postnatal growth retardation, Abdominal distention, Recurrent infections, Ovarian cyst, Pancreati... OMIM:246200
Immunodeficiency 54
Recurrent respiratory infections, Short stature, Recurrent viral infections, Postnatal growth ret... OMIM:609981
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, BCGitis, Recurrent in... OMIM:226990
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Nijmegen Breakage Syndrome
Anal stenosis, Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, Recurrent urinar... OMIM:251260
Legionnaires Disease
Nausea and vomiting, Ataxia, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Recurrent pharyngi... ORPHA:549
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Leukocytosis, Chronic diarrhea, Mediastinal lymphadenopathy, Gastroesophage... OMIM:620233
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia ORPHA:49827
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Esophageal stricture, Chronic diarrhea, Premature g... OMIM:613989
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Thyroid Hypoplasia
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation, Hypothyroidism, Th... ORPHA:95720
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Ataxia, Impaired T cell function... OMIM:613179
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Anal fissure, Abscess, Perianal abscess, Spl... OMIM:618935
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Brittle hair, Sparse scalp hair, Brittle scalp... OMIM:256500
Rapadilino Syndrome
Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Diarrhea... OMIM:266280
Vici Syndrome
Recurrent viral infections, Albinism, Leukopenia, T lymphocytopenia, High palate, Neutropenia, De... OMIM:242840
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Diarrhea, Recurrent inf... OMIM:617827
Omenn Syndrome
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Sepsis, Lympha... ORPHA:39041
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Abdominal pa... ORPHA:822
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Ataxia, Thick hair, Splenomegaly, Chronic diarrhea, Feeding dif... OMIM:613489
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting OMIM:606528
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Increased... ORPHA:160
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Severe short stature, Difficulty walking OMIM:619345
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Esophageal varix, Decreas... OMIM:614576
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Howell-Jolly bodies, Gast... ORPHA:85443
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Paronychia, Increased circulating IgE level, Bloody diarrhea, Onycho... OMIM:614328
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Intestinal inflammation, Chronic diarrhea, Hepatosplenomegaly, Growth delay, Granul... OMIM:619858
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay, Absence of intrinsic factor OMIM:243320
Folinic Acid-Responsive Seizures
Abdominal distention, Broad-based gait, Ataxia, Difficulty walking ORPHA:79097
Icf Syndrome
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Malabsorption, Protr... ORPHA:2268
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair, Anemia ORPHA:79402
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Cryoglobulinemia, Ataxia, Abnormality of neutroph... ORPHA:33226
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... ORPHA:3261
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis, Feeding difficulties, Fine hair, Chronic constipation, Frontal ... OMIM:300406
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Typhoid
Gastrointestinal hemorrhage, Ataxia, Abdominal pain, Splenomegaly, Diarrhea, Constipation, Lethar... ORPHA:99745
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair ORPHA:1174
Classic Galactosemia
Ataxia, Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Sepsis, Feeding difficulties... ORPHA:79239
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Sepsis, Pulmonary tuberculosis, Decreased cir... ORPHA:183675
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea ORPHA:231
Brunner Syndrome
Diarrhea OMIM:300615
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Congenital Toxoplasmosis
Diarrhea, Lymphadenopathy, Anemia, Intrauterine growth retardation, Thrombocytopenia ORPHA:858
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Short stature, Sparse body hair ORPHA:85274
Kasabach-Merritt Syndrome
Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Hyperhidrosis, Leukopeni... ORPHA:2330
Primary Biliary Cholangitis
Increased circulating IgA level, Celiac disease, Abdominal distention, Gastrointestinal inflammat... ORPHA:186
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Nail pits, Premature graying of... OMIM:127550
Gonadoblastoma
Abdominal pain, Abdominal distention, Hirsutism, Ovarian gonadoblastoma, Abnormality of the ovary... ORPHA:206484
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Exocrine pancreatic ... OMIM:620005
Trichothiodystrophy 9, Nonphotosensitive
Ataxia, Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Low anterior hairline, Abnormal isohemagglutinin level, Chronic lymphocytic me... ORPHA:99843
Igg4-Related Aortitis
Intestinal obstruction, Increased circulating IgG4 level, Abdominal pain, Increased circulating I... ORPHA:449400
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Intrauterine growth r... OMIM:616353
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Alopecia, Malabsorption, Asplenia, Diarrhea, Decreased ci... OMIM:240300
Cholesteryl Ester Storage Disease
Nausea and vomiting, Splenomegaly, Diarrhea, Esophageal varix, Hepatic failure ORPHA:75234
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Bone-marrow foam cells, Abdominal pain, Hype... ORPHA:275761
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia, Abdominal pa... ORPHA:98849
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorpt... ORPHA:309108
Mogs-Cdg
Alopecia, Fair hair, Hirsutism, Decreased circulating antibody level, Hepatosplenomegaly, Decreas... ORPHA:79330
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Short stature, Gastrostomy tube feeding in infanc... OMIM:613385
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Thrombocytopenia, Rectal prolapse, Leuko... ORPHA:90038
Mirage Syndrome
Recurrent urinary tract infections, Short stature, Thrombocytopenia, Esophageal stricture, Chroni... OMIM:617053
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Growth delay, Inflammation ... OMIM:266600
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Abdomina... ORPHA:398063
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Ataxia, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea OMIM:619971
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Short stature, Cryptorchidism, Intrauterine growth retardation, Sparse... ORPHA:261483
Letterer-Siwe Disease
Abdominal distention, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Increased circulating IgM level, Dysphagia ORPHA:99824
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Decreased circulating cortisol level, ... ORPHA:199299
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Neutropenia, Sparse hair, Short stature, Cryptorchidism, S... OMIM:617052
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... ORPHA:2251
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Leukopenia, Lethargy,... ORPHA:99828
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Recurrent viral infection... OMIM:619573
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Intrauterine growth retardat... OMIM:615966
Congenital Disorder Of Glycosylation, Type Ii
Short stature, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Hypothyroi... OMIM:607906
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation, Hyperhidrosis OMIM:615548
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Episodic hyperhidrosis, Growth delay, Constipatio... ORPHA:469
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Splenomegaly, Abdominal distention, Cryptorchidism, Pancreatic lymp... ORPHA:1655
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, L... ORPHA:79456
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Chronic diarrhea, Decreased circulating antibo... OMIM:300972
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, White hair, Fine hair, Ag... ORPHA:935
Sézary Syndrome
Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal ... ORPHA:3162
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Feeding difficulties, Sparse hair, Neutropenia, Loss of ambulation, Intrauterine growt... OMIM:618253
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Complement Component 5 Deficiency
Reduced hemolytic complement activity, Recurrent Neisserial infections, Intractable diarrhea, Dec... OMIM:609536
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Diarrhea, Vomiting ORPHA:30925
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Hepato... OMIM:619644
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Short stature, Long eyebrows, Cryptorchidism, Feedi... OMIM:613224
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Cryptorchidism, Hypohidrosis, Acute leukemia, Testicu... ORPHA:281090
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis OMIM:620137
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, High, narrow palate, Constipation, Cryptorchidism OMIM:273390
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Postnatal growth retardation, Fine hair, Anemia, Premature graying of hair... OMIM:612199
Sandhoff Disease, Juvenile Form
Ataxia, Diarrhea, Gait disturbance, Constipation, Dysphagia ORPHA:309162
Sialuria
Splenomegaly, Synophrys, Low posterior hairline, Macroglossia, High palate, Hypoplastic nipples, ... OMIM:269921
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Recurrent respiratory infections, Sparse scalp hair, Splenomegaly, Defective producti... OMIM:612132
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Cryptorchidism, Feeding difficulties, Thrombocytopenia, Decreased circula... OMIM:616638
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e... ORPHA:2575
Achondrogenesis, Type Ib
Abdominal distention, Neonatal short-limb short stature OMIM:600972
Achondrogenesis Type 1A
Abdominal distention, Severe short stature ORPHA:93299
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter... OMIM:256040
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia OMIM:227260
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Synophrys, Coarse hair, Dys... OMIM:252930
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, White hair, Hyperhidrosis, Premature graying of ha... ORPHA:1775
Glycogen Storage Disease Ixb
Growth delay, Splenomegaly, Diarrhea, Short stature OMIM:261750
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Hypohidrosis, Fine hair, Sparse... OMIM:129490
Spontaneous Periodic Hypothermia
Nausea and vomiting, Ataxia, Diarrhea, Hyperhidrosis, Gait disturbance ORPHA:29822
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Abdominal distention, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, Hi... OMIM:235255
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Short stature, Hypochromic microcytic anemia OMIM:619423
Revesz Syndrome
Aplastic anemia, Ataxia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Spars... OMIM:268130
Ovarian Fibrothecoma
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary, Hir... ORPHA:314478
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Abdominal distention, Episodic abdominal... ORPHA:370348
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte... OMIM:620133
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Pyloric stenosis, Ileus, Recurrent pneumonia, Feeding difficulties, Recurrent infec... OMIM:613327
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Synophrys, Coarse hair, Hir... OMIM:252920
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Iron deficiency anemia, Colitis, St... ORPHA:309031
2Q32Q33 Microdeletion Syndrome
Short stature, Cleft palate, Feeding difficulties, Growth delay, Fine hair, High palate, Sparse h... ORPHA:251019
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infecti... OMIM:618278
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Recurrent urinary tract infections, Recurrent respiratory infections, Hypop... OMIM:619365
Trichohepatoenteric Syndrome 1
Curly hair, Villous atrophy, Brittle hair, Short stature, Increased mean platelet volume, Splenom... OMIM:222470
Malignant Peritoneal Mesothelioma
Abdominal distention, Peritonitis, Ileus, Abdominal pain ORPHA:168811
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Malabsorption, Feeding difficulties in i... ORPHA:3260
Riddle Syndrome
Generalized lymphadenopathy, Short stature, Ataxia, Abdominal pain, Recurrent viral infections, D... ORPHA:420741
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Lymphaden... ORPHA:2221
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Broad-based gait, Alopecia, Short stature, Microcytic anemia, Recurrent... ORPHA:2959
Filippi Syndrome
Postnatal growth retardation, Cryptorchidism, Sparse hair, Intrauterine growth retardation, Front... OMIM:272440
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Recurrent respiratory infections, Rhizomelia, Diarrhea, Severe short-limb dw... ORPHA:1842
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Leukocytosis, Gastrointestin... ORPHA:67
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Sparse hair ORPHA:2985
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Synophrys, Coarse hair, Hir... OMIM:252900
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Congenital hypothyroidism, Growth delay, M... OMIM:218700
Meckel Syndrome, Type 8
Abdominal distention, Cleft palate OMIM:613885
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Diarrhea, Abnormal lymph node morphol... ORPHA:54251
Dubowitz Syndrome
Sparse scalp hair, Aplastic anemia, Short stature, Postnatal growth retardation, Feeding difficul... OMIM:223370
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Ataxia, Abdominal pain, Splenomegaly, Diarrhea, Lymphadenopathy, Recurrent b... ORPHA:36412
Congenital Short Bowel Syndrome
Intestinal hypoplasia, Sparse hair, Short stature, Intestinal malrotation ORPHA:2301
Glycogen Storage Disease Ib
Short stature, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Pancreatitis, Recurre... OMIM:232220
Fanconi Anemia, Complementation Group S
Ataxia, Short stature, Low anterior hairline, Narrow palate, Ovarian neoplasm, Long eyelashes, Ov... OMIM:617883
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Incr... OMIM:615508
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Moynahan Syndrome
Sparse hair, Alopecia, Short stature ORPHA:2574
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Cryptorchidism, Truncal ataxia, Gait ataxia, Growth delay, Fine hair, Delayed pube... OMIM:616817
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis,... OMIM:158310
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Vascular Hyalinosis
Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protein-losing enteropathy OMIM:277175
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Alg8-Cdg
Abnormality of the gastrointestinal tract, Ataxia, Diarrhea, Feeding difficulties, Anemia, Macrog... ORPHA:79325
Hawkinsinuria
Sparse hair, Hypothyroidism, Fine hair ORPHA:2118
Ovarian Fibroma
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary ORPHA:314473
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Shwachman-Diamond Syndrome 2
Normocytic anemia, Short stature, Diarrhea, Steatorrhea, Recurrent infections, High palate, Neutr... OMIM:617941
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... ORPHA:66628
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... ORPHA:231214
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Hi... ORPHA:3051
Heyn-Sproul-Jackson Syndrome
Sparse hair, Intrauterine growth retardation, Severe short stature OMIM:618724
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... OMIM:246700
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Recurrent herpes, Generalized lymphadenopathy, Abnorma... ORPHA:33276
Immunodeficiency 9
Chronic diarrhea, BCGitis, Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous sto... OMIM:612782
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Generalized lymphadenopathy, Hematemesis, Thr... OMIM:615846
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Diarrhea, Vomiting, Feeding difficulties OMIM:612075
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, Fulminant hepatitis, Thyroiditis, Ulce... ORPHA:2137
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Chronic diarrhea, Pancreatitis, Microcytic anemia OMIM:618805
Malonyl-Coa Decarboxylase Deficiency
Short stature, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Satoyoshi Syndrome
Alopecia, Short stature, Malabsorption, Diarrhea, Alopecia universalis OMIM:600705
Whim Syndrome
Abnormal small intestine morphology, Lymphadenitis, Recurrent upper respiratory tract infections,... ORPHA:51636
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... OMIM:616084
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Ataxia, Feeding difficulties in infancy, Diarrhea, Dysmetria, Vomiting, Steatorr... OMIM:212065
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... ORPHA:179494
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Short stature, Postnatal growth retardation, Synophrys, Sparse hair, Thick eyebrow OMIM:611091
Relapsing Fever
Neutrophilia, Abdominal pain, Leukocytosis, Diarrhea, Anemia, Leukopenia, Vomiting, Thrombocytopenia ORPHA:91547
Lysinuric Protein Intolerance
Short stature, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Pancreatitis, Fine hair, ... OMIM:222700
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Pediatric-Onset Graves Disease
Nausea and vomiting, Splenomegaly, Diarrhea, Thyrotoxicosis with diffuse goiter, Increased circul... ORPHA:525731
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Abdominal... ORPHA:2131
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Short stature, Ataxia, Cryptorchidism, Dysmetria, Dysdiadochokinesis, Gait dist... OMIM:616541
Even-Plus Syndrome
Recurrent urinary tract infections, Severe short stature, Highly arched eyebrow, Synophrys, High ... OMIM:616854
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Splenomegaly, Leukocytosis, Chronic diarrhea, Lymphadenitis, Lymphadenopathy, Hem... OMIM:615895
X-Linked Acrogigantism
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Abdominal di... ORPHA:300373
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Thyroid Ectopia
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation, Ectopic thyroid, H... ORPHA:95712
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Rec... ORPHA:64743
Currarino Syndrome
Anal stenosis, Recurrent urinary tract infections, Perianal abscess, Gastrointestinal obstruction... OMIM:176450
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Let... ORPHA:927
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Severe short stature, Short stature, Postnatal growth retardation, Splenomegaly, R... OMIM:253220
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Cryptorchidism, Congenital pyloric atresia, Hyperhi... ORPHA:2617
Avian Influenza
Abdominal pain, Meningitis, Diarrhea, Sepsis, Leukopenia, Vomiting, Lymphopenia, Infectious encep... ORPHA:454836
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism, Thrombocyto... ORPHA:449285
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Growth delay, Hyperald... OMIM:214700
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Pseudohypoaldosteron... OMIM:264350
Whipple Disease
Gastrointestinal hemorrhage, Ataxia, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarr... ORPHA:3452
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Pancreatitis, Gallbladder perfor... ORPHA:521219
Bloom Syndrome
Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Recurrent upper respirator... OMIM:210900
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Gastroesophageal reflux, Abdominal distention, Feeding difficulties OMIM:620275
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardat... ORPHA:96180
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Chronic neutropenia, Pancreatitis, Diarrhea, Hepatocellular adenoma, Enterocolitis... ORPHA:79259
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Splenomegaly, Diarrhe... ORPHA:3386
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of... ORPHA:2850
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the ... ORPHA:181
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pneumonia, Fe... OMIM:607143
Aredyld
Generalized hypotrichosis OMIM:207780
Adiposis Dolorosa
Sparse axillary hair, Sparse pubic hair, Diarrhea, Xerostomia, Constipation, Hypothyroidism ORPHA:36397
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Proportionate short stature, Synophrys, Low anterior hairline, Fine hair, Sever... ORPHA:391408
Shigellosis
Abscess, Anorexia, Abdominal pain, Intestinal perforation, Thrombocytopenia, Leukocytosis, Perito... ORPHA:810
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Reticulocytosis, Lymphopenia, Anorexia, Abdominal pain... ORPHA:99826
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Furrowe... ORPHA:1839
Cardiocranial Syndrome, Pfeiffer Type
Short stature, High, narrow palate, Cryptorchidism, Abnormal hair whorl, Growth delay, Sparse hai... ORPHA:2872
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hyaline Fibromatosis Syndrome
Diarrhea, Recurrent infections OMIM:228600
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Gait disturbance, Disproportionate short-trunk short stature, Protuberant abdomen OMIM:613330
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Short stature, Ataxia, Poor appetite, Thin nail, Inability to walk, Gastrointestinal ... OMIM:617799
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Sepsis, Leukopenia, Protein-losing enteropathy,... OMIM:619991
Braddock-Carey Syndrome 1
Curly hair, Cleft palate, Anteriorly placed anus, Growth delay, Sparse hair, Thrombocytopenia OMIM:619980
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Recurrent respiratory infections, Autoimmune hemolytic anemia, Diarrhea, Coo... ORPHA:90035
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Mucopolysaccharidosis, Type Ii
Severe short stature, Intestinal pseudo-obstruction, Short stature, Splenomegaly, Diarrhea, Recur... OMIM:309900
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Diarrhea, Hepatosplenomegaly, Anemia, Leuk... ORPHA:470
Central Diabetes Insipidus
Nausea and vomiting, Lethargy, Diarrhea, Anorexia ORPHA:178029
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperhidrosis, Pseudo... ORPHA:79276
Rapp-Hodgkin Syndrome
Short stature, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Velopha... OMIM:129400
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Recurrent bronchitis, Autoimmune thrombocytop... ORPHA:1572
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Anorexia, Malabsorption... OMIM:557000
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Recurrent infe... OMIM:258360
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Protei... ORPHA:79327
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, H... OMIM:617718
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Difficulty walking, Secondary hyperparathyroidism, Protuberant abdomen, Alopecia un... OMIM:277440
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption OMIM:211600
Familial Mediterranean Fever
Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Peritonitis, Episod... OMIM:249100
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Gaucher Disease, Type Ii
Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant abdomen, Dysphag... OMIM:230900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Postnatal growth retardation, Splenomegaly, Diarrhea, Hepatocellular adenoma, Recu... ORPHA:79240
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... OMIM:602400
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Anauxetic Dysplasia 2
Short stature, Macroglossia, Small nail, Nail dysplasia, Sparse hair, Intrauterine growth retarda... OMIM:617396
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c... ORPHA:65682
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Short stature, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infection... OMIM:252940
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... ORPHA:97283
Bainbridge-Ropers Syndrome
Thick eyebrow, Intestinal malrotation, Supernumerary nipple, Highly arched eyebrow, Inability to ... OMIM:615485
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Graft Versus Host Disease
Abdominal pain, Diarrhea, Hepatosplenomegaly, Gastrointestinal inflammation, Recurrent infections... ORPHA:39812
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Diarr... OMIM:235400
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... ORPHA:202
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Esophageal varix, Hepat... ORPHA:264580
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow, Feeding difficul... ORPHA:261304
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... OMIM:619472
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix, Lethargy OMIM:215600
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Celiac disease, Xer... ORPHA:227990
Primary Hepatic Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Anorexia, Abdominal distention, Diarrhea, Episodic abdomin... ORPHA:100085
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent upper respiratory tract... OMIM:619446
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Prostatitis, Increased circulating IgE level, Xer... ORPHA:449432
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Disproportionate short-limb short stature, Cleft palate ORPHA:85166
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune hypoparathyroidism, Autoimmune thromb... ORPHA:227982
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Increased... ORPHA:97280
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Abdominal distention, Cleft palate, Anonychia ORPHA:2604
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Slow-growing hair, Sparse eyelashes, Hypohidrosis, Sparse hair, Sparse body hair OMIM:618535
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Broad-based gait, Short stature, Ataxia, Reye syndrome-like episodes, Abdo... OMIM:256810
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Poor appetite, Diarrhea, Recurrent infections, Dysphagia, Nausea ORPHA:352447
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Gro... ORPHA:217346
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Low anterior hairline, Hypoplasia o... OMIM:617666
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Short stature, Absent facial hair, High, narrow palate, Low posterior hairline ORPHA:2183
Noonan Syndrome 14
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, High, narrow palate, Hyperhidrosis, Lo... OMIM:619745
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Ataxia, Thick hair, Malabsorption, Splenomegaly, Synophrys, R... ORPHA:581
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Recurrent respiratory in... ORPHA:36426
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Diarrh... ORPHA:324636
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short stature, Sparse eyelashes, Postnatal growth retardation, Feeding difficulties in infancy, C... OMIM:613026
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Hypoparathyroidism, Hepatocellular carcinoma, Thrombocyt... OMIM:277900
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft palate, Nail dystrophy, Trichodys... ORPHA:2890
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Recurrent respiratory infections, Absent nipple, Absent eyebrow, Sparse eyelashes, Sp... OMIM:614941
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Hypohidrosis ORPHA:1810
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Sparse hair, Distichiasis, ... ORPHA:1807
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... ORPHA:97278
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Splenomegaly, Disproportionate short-limb short stature OMIM:602557
Lujo Hemorrhagic Fever
Leukocytosis, Odynophagia, Fulminant hepatitis, Diarrhea, Severe viral infection, Hyperhidrosis, ... ORPHA:319213
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Scarring alopecia of scalp, Sp... ORPHA:59303
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf... OMIM:603041
Japanese Encephalitis
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Choreoathetosis, Increased circulating IgM leve... ORPHA:79139
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Short stature, Alopecia totalis, Cryptorchidism, Diarrhea, Functional abnormalit... ORPHA:221008
Acute Radiation Syndrome
Diarrhea, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Systemic Capillary Leak Syndrome
Leukocytosis, Pancreatitis, Diarrhea, Abdominal pain ORPHA:188
Bazex-Dupre-Christol Syndrome
Hypohidrosis, Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrh... OMIM:301845
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, Decreased circu... OMIM:612301
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Small nail, Nail dysplasia, Bifid uvula OMIM:601110
Dermoodontodysplasia
Sparse scalp hair, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse... ORPHA:1660
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Short stature, Decreased response to growth hormone stimulation test,... OMIM:615280
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Leukopenia... ORPHA:974
Tetrasomy 12P
Short stature, Abnormal soft palate morphology, Sparse eyebrow, Hypohidrosis, Sparse hair, Anal a... ORPHA:884
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen, Severe short stature, Disproportionate short-limb short stature, Cleft palate OMIM:184250
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Recurrent urinary tract infections, Anorexia, Cryptorchidis... ORPHA:361
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Disproportionate short stature, Severe short stature, Hepatosplenomegaly ORPHA:93352
Glutaric Aciduria Iii
Diarrhea, Hyperthyroidism, Vomiting, Goiter OMIM:231690
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Anorexia, Poor appetite, Hematemesis,... ORPHA:100075
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Abscess, Nausea, Abdominal pain, Severe varicella zoster infe... ORPHA:36234
Methionine Malabsorption Syndrome
Diarrhea, White hair OMIM:250900
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Unsteady gait, Feeding difficulties, Dysphagia ORPHA:79101
B4Galt1-Cdg
Splenomegaly, Diarrhea, Hypothyroidism ORPHA:79332
Hurler Syndrome
Recurrent respiratory infections, Short stature, Splenomegaly, Hepatosplenomegaly, Macroglossia, ... OMIM:607014
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Adrenal insufficiency, H... ORPHA:85445
Xp22.13P22.2 Duplication Syndrome
Short stature, Recurrent upper respiratory tract infections, Polycystic ovaries, High palate, Spa... ORPHA:284180
Biotinidase Deficiency
Alopecia, Ataxia, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Vomiting, Lethargy OMIM:253260
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Hypohid... OMIM:301220
Grfoma
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... ORPHA:97261
Galactosemia I
Hemolytic anemia, Diarrhea, Vomiting, Decreased liver function OMIM:230400
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair OMIM:615278
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Short stature, Abdominal pain, High, narrow palat... ORPHA:79076
Congenital Disorder Of Glycosylation, Type Iib
Feeding difficulties in infancy, Decreased circulating antibody level, Long eyelashes, High palat... OMIM:606056
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Monoclonal elevation of c... ORPHA:91139
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Hypohidrosis, Vomiting, Delayed puberty, Nausea, Anemia OMIM:301500
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Abnormal tongue morpholo... ORPHA:653
Gand Syndrome
Sparse hair OMIM:615074
Dubowitz Syndrome
Abnormality of neutrophils, Hypoplastic toenails, Rectal prolapse, Low anterior hairline, High pa... ORPHA:235
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ataxia, Anorexia, Reye syndrome-like episodes, Leukocytosis, Diarrhea, Leukop... ORPHA:20
Acute Adrenal Insufficiency
Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Anorexia, Abdominal... ORPHA:95409
Rift Valley Fever
Anorexia, Hematemesis, Severe viral infection, Melena, Increased circulating IgG level, Anemia, I... ORPHA:319251
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Abdominal pa... ORPHA:99829
Progeroid Syndrome, Petty Type
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... ORPHA:2963
Tick-Borne Encephalitis
Anorexia, Meningitis, Leukocytosis, Unusual CNS infection, Leukopenia, Increased circulating IgG ... ORPHA:297
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure OMIM:607765
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Enteric Anendocrinosis
Diarrhea, Vomiting, Malabsorption ORPHA:83620
Mucolipidosis Type Ii
Recurrent respiratory infections, Dry hair, Short stature, Postnatal growth retardation, Splenome... ORPHA:576
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Hyperhidrosis OMIM:613576
Cutaneous Mastocytoma
Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea ORPHA:79455
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Cryptorchidism, Increased circulating gonadotropin level, Sparse body hair, Intrau... OMIM:300869
Zygomycosis
Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Infectious encephalitis, Naus... ORPHA:73263
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Diarrhea, Hepatic failure, Steatorrhea OMIM:235555
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progressive gait ataxia, Tip-... ORPHA:309256
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Diarrhea, Reduced hemolytic complement activity, Vomiting, Decr... OMIM:106100
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Short stature, Hyperconvex nail, Chronic constipation, Gastroesophageal reflux, Sparse hair OMIM:619721
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... ORPHA:906
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Hyperhidrosis, Lymphadenopathy, Pheochromocytoma, Dysphagi... ORPHA:1332
Ectodermal Dysplasia/Skin Fragility Syndrome
Anhidrosis, Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys... OMIM:604536
Dpm1-Cdg
Ataxia, High, narrow palate, Diarrhea, Hepatosplenomegaly, Nail dysplasia, Gastrostomy tube feedi... ORPHA:79322
Down Syndrome
Aganglionic megacolon, Protruding tongue, Narrow palate, Acute megakaryocytic leukemia, Macroglos... ORPHA:870
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Short stature, Decreased response to growth hormone st... OMIM:618223
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair OMIM:620075
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Growth delay, Difficulty walking, Secondary hyperparathyroidism, Protuberant abdomen OMIM:264700
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain... ORPHA:342
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficu... OMIM:618183
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Turcot Syndrome With Polyposis
Intestinal polyposis, Ataxia, Abdominal pain, Pilomatrixoma, Diarrhea, Adenomatous colonic polypo... ORPHA:99818
Melas
Hypoparathyroidism, Short stature, Intestinal pseudo-obstruction, Ataxia, Gastrointestinal dysmot... ORPHA:550
Polyembryoma
Macroorchidism, Abdominal distention, Abdominal pain ORPHA:180229
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Recurrent... ORPHA:32960
Microsporidiosis
Brain abscess, Anorexia, Abdominal pain, Abnormality of the spleen, Lymphadenitis, Chronic diarrh... ORPHA:2552
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Incontinentia Pigmenti
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits... OMIM:308300
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Abnormal lymph node morphology, Vomiting, Pancrea... ORPHA:677
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen OMIM:618272
Addison Disease
Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Hypoparathyroidism,... ORPHA:85138
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffus... ORPHA:64744
Rothmund-Thomson Syndrome
Short stature, Aplastic anemia, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Nasogastric t... ORPHA:2909
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Hypohidrosis, Bilat... ORPHA:3253
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Protuberant abdomen OMIM:617102
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... OMIM:234050
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Diarrhea, Vomiting, Decreased liver function, Lethargy ORPHA:42
Okur-Chung Neurodevelopmental Syndrome
Ataxia, Highly arched eyebrow, Protruding tongue, Synophrys, Decreased circulating antibody level... OMIM:617062
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis, Anal atresia OMIM:119580
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sou... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sou... ORPHA:100082
Cutis Laxa, Autosomal Recessive, Type Iiia
Short stature, Cryptorchidism, Athetosis, Sparse hair, Intrauterine growth retardation, Episodic ... OMIM:219150
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism OMIM:616819
Rasmussen Subacute Encephalitis
Inability to walk, Decreased circulating total IgA ORPHA:1929
Brucellosis
Liver abscess, Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Vomiting, In... ORPHA:1304
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Hypochromic microcytic anemia, Growth delay, Vomiting, Thrombocytopenia ORPHA:3240
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Growth delay, Macroglossia, Seve... OMIM:252500
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Postnatal growth retardation, Difficulty walking, Protuberant abdomen, Secondary h... ORPHA:289157
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Leprechaunism
Enlarged ovaries, Postnatal growth retardation, Abdominal distention, Rectal prolapse, Megarectum... ORPHA:508
Fanconi-Bickel Syndrome
Growth delay, Abdominal distention, Hepatic failure, Hepatocellular carcinoma ORPHA:2088
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Short stature, Alopecia totalis, Cryptorchidism, Diarrhea, Functional abnormalit... ORPHA:221016
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Pearson Syndrome
Decreased response to growth hormone stimulation test, Neutropenia, Hypothyroidism, Hypoparathyro... ORPHA:699
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Feeding difficulties in infancy, Sp... OMIM:115150
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Fanconi-Bickel Syndrome
Postnatal growth retardation, Abdominal distention, Poor appetite, Malabsorption OMIM:227810
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Diarrhea, Malabsorption OMIM:600955
Desbuquois Syndrome
Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo... ORPHA:1425
Trichohepatoneurodevelopmental Syndrome
Synophrys, Coarse hair, Gastroesophageal reflux, High palate, Thoracic hypertrichosis, Hypothyroi... OMIM:618268
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Cholestasis, Progressive Familial Intrahepatic, 3
Splenomegaly, Diarrhea, Bile duct proliferation, Malabsorption OMIM:602347
Jaberi-Elahi Syndrome
Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inability to walk, Dysmetria, G... OMIM:617988
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Ataxia, Diarrhea, Gait ataxia, Vomiting, Lethargy, Episodic vomiting OMIM:618321
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Short stature, Pyloric stenosis, Gastrointestinal ... OMIM:270400
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Dysmetria, Sparse hair, Hirsutism OMIM:618087
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Abdominal distention, Progressive gait ataxia, Difficulty walking, Neoplasm o... ORPHA:309271
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T ... OMIM:607944
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Short stature, Sparse eyebrow OMIM:619989
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Postnatal growth retardation, Pyloric stenosis, Biliary hyperplasia, Cr... ORPHA:83617
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Erythermalgia, Primary
Hyperhidrosis, Diarrhea, Xerostomia, Constipation OMIM:133020
White-Sutton Syndrome
Waddling gait, Short stature, Cleft palate, Feeding difficulties, Recurrent infections, Gastroeso... OMIM:616364
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Poor appetite, Diarrhea, Increased circulating... ORPHA:542323
Lymphatic Malformation 7
Abdominal distention, Anemia OMIM:617300
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Short stature OMIM:619985
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Nail dystrophy, Intestinal... ORPHA:79403
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Short statu... ORPHA:647
Trichorhinophalangeal Syndrome, Type I
Recurrent respiratory infections, Short stature, Thin nail, Slow-growing hair, Concave nail, Narr... OMIM:190350
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Cleft palate, Hypohidrosis, Spa... ORPHA:2316
Diarrhea 13
Secretory diarrhea, Vomiting OMIM:620357
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Rhizomelia ORPHA:1515
Crimean-Congo Hemorrhagic Fever
Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Neutrophilia, Abdominal pai... ORPHA:99827
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Tric... ORPHA:95455
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Feeding difficulties, Growth delay, Adrenal insufficiency, Letharg... ORPHA:427
Acrofacial Dysostosis, Palagonia Type
Short stature, Sparse eyelashes, High, narrow palate, Low anterior hairline, Thin eyebrow, Sparse... ORPHA:1787
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm ORPHA:50944
Glycogen Storage Disease Ia
Short stature, Hepatocellular carcinoma, Growth delay, Protuberant abdomen, Delayed puberty, Inte... OMIM:232200
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ep... ORPHA:100086
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting OMIM:177735
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Short stature, Sparse facial hair, Sparse axillary hair OMIM:608154
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Hyperhidrosis, Choreoathetosis, Athetosis, Constipatio... OMIM:608643
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Scarring alopecia of scalp, Congenital pyloric atresia, Vomiting, Nail dyst... ORPHA:158684
Houge-Janssens Syndrome 1
Gait ataxia, Pyloric stenosis, Chronic diarrhea, Intrauterine growth retardation OMIM:616355
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Malabsorption, Poor ... ORPHA:37
Lamellar Ichthyosis
Recurrent respiratory infections, Short stature, Sepsis, Sparse hair, Abnormality of the nail, Ap... ORPHA:313
Bronchogenic Cyst
Abdominal pain, Chronic infection, Abnormal stomach morphology, Dysphagia, Abnormal esophagus mor... ORPHA:2357
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... OMIM:131100
Borjeson-Forssman-Lehmann Syndrome
Short stature, Feeding difficulties in infancy, Cryptorchidism, Sparse hair, Decreased testicular... ORPHA:127
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Hypohidrosis, Furrowed tongue, Nail dystrophy, Sparse hair,... ORPHA:140936
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Hennekam Syndrome
Recurrent respiratory infections, Mild postnatal growth retardation, Sparse axillary hair, Malabs... ORPHA:2136
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct proliferation, Sp... OMIM:607626
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Diarrhea, Leukocytosis, Vomiting, Thrombocytosis ORPHA:134
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... ORPHA:913
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Nasogastric tube feeding ORPHA:289504
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Diarrhea, Hematochezia, Acholic stools, Bile duct proliferation, Steatorrhea, Hepat... OMIM:613812
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Episodic hyperhidrosis, Diarrhea, Recurrent infections due to as... OMIM:223900
Carnitine Deficiency, Systemic Primary
Lethargy, Diarrhea, Vomiting OMIM:212140
Listeriosis
Brain abscess, Unusual skin infection, Liver abscess, Ataxia, Abscess, Abdominal pain, Diarrhea, ... ORPHA:533
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia ORPHA:589821
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, Hepatic failure OMIM:602579
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... OMIM:175200
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Hypothyroidism, Patchy alopecia, Short stature OMIM:617763
Developmental And Epileptic Encephalopathy 50
Broad-based gait, Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia OMIM:616457
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement deficiency, ... ORPHA:449427
Diaphanospondylodysostosis
Disproportionate short-trunk short stature, Cleft palate, Protuberant abdomen, Intrauterine growt... OMIM:608022
Cockayne Syndrome Type 1
Ataxia, Postnatal growth retardation, Cryptorchidism, Diarrhea, Hypohidrosis, Gait disturbance, D... ORPHA:90321
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Abnormal tongue morphology, Chronic diarrhea, Recurrent pneumonia, Sepsis, Hypohid... ORPHA:158668
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Decreased circulating antibody level, Hepat... ORPHA:247598
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Rhizomelia, Malabsorption, Sparse eyebrow, Decreased circulating antibody ... ORPHA:175
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair, Short stature ORPHA:1883
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Feeding difficulties, Decreased circulating total IgM, High palate, Constipation, Ann... OMIM:618162
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sparse eyelashes, Pos... ORPHA:477
Vipoma
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Malabsorption, Poor appetite, Elevated c... ORPHA:97282
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, High palate, Dysphagia OMIM:620001
Neuroblastoma, Susceptibility To, 1
Diarrhea, Ataxia, Anemia, Abdominal pain OMIM:256700
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Oral-pharyngeal dysphagia, Postnatal growth retardation, High, narrow palate, Synophrys, ... OMIM:300966
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Low posterior hairline, Thin eyebrow, Sparse hair OMIM:619320
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Hyperhidrosis, Vomiting, Pancreatic islet-cell hyperplasia, Lethargy ORPHA:263455
Menkes Disease
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation OMIM:309400
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, High palate, Feeding difficulties OMIM:614105
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Sepsis, Microcolon OMIM:619362
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hypohidrosis, Sparse hair,... ORPHA:1005
Joubert Syndrome 37
Short stature, Cryptorchidism, High palate, Sparse hair, Decreased testicular size OMIM:619185
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Diarrhea, Feeding difficulties, Tip-toe gait, Constipation, High palate, Intermitt... OMIM:618050
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... ORPHA:90291
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea, Recurrent infections OMIM:615084
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Decreased circulating complement factor B concentration, Increased ci... ORPHA:2298
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair ORPHA:177
Shukla-Vernon Syndrome
Sparse hair, Broad-based gait OMIM:301029
Rat-Bite Fever
Parotitis, Lymphadenitis, Diarrhea, Sepsis, Vomiting, Meningitis, Pancreatitis, Anemia ORPHA:31205
Nicolaides-Baraitser Syndrome
Recurrent respiratory infections, Dry hair, Absent eyebrow, Short stature, Sparse scalp hair, Hig... OMIM:601358
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Deeah Syndrome
Decreased hemoglobin concentration, Short stature, Decreased response to growth hormone stimulati... OMIM:619004
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Disproportionate short-limb short stature, Protuberant abdomen OMIM:187600
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Abnormal ... ORPHA:678
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Abnormal fingernail morphology, Short stature, Hypohidrosis, Fi... ORPHA:1806
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sou... ORPHA:100080
Aredyld Syndrome
Short stature, Splenomegaly, Intrauterine growth retardation, Sparse body hair, Aplasia/Hypoplasi... ORPHA:1133
Dyggve-Melchior-Clausen Disease
Severe short stature, Rhizomelia, Inability to walk, Recurrent upper respiratory tract infections... ORPHA:239
Diamond-Blackfan Anemia 21
Short stature, Erythroid hypoplasia, Synophrys, Chronic diarrhea, Widow's peak, Anemia, Coarse ha... OMIM:620072
Metachromatic Leukodystrophy
Ataxia, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal ga... ORPHA:512
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Recurrent infections, Microcolon OMIM:619351
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent sinusitis... OMIM:613960
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Opitz-Kaveggia Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Narrow pa... OMIM:305450
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea OMIM:176000
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Cleft palate, Furrowed tongue, Gastroesophageal reflux, Constipation, High p... OMIM:616449
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Achondrogenesis, Type Ii
Protuberant abdomen, Disproportionate short-trunk short stature, Disproportionate short-limb shor... OMIM:200610
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Lobulated tongue, Hypoplastic nipples,... OMIM:269860
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Postnatal growth retardation, Feeding difficulties in infancy, Nasogastric tube... ORPHA:251028
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Hamamy Syndrome
Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Low post... OMIM:611174
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Brittle hair, Short stature, Slow-growing hair, Feedin... ORPHA:1340
Cholestasis, Progressive Familial Intrahepatic, 9
Splenomegaly, Diarrhea OMIM:619849
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Diarrhea, Feeding difficulties OMIM:255120
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Ulcerative colitis, Increased circulating IgG level, Inflammation of the large intestine, Granulo... ORPHA:562639
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Severe short stature, Malabsorption, Chronic diarrhea,... ORPHA:2176
Schneckenbecken Dysplasia
Protuberant abdomen, Disproportionate short-limb short stature, Cleft palate OMIM:269250
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/... OMIM:305100
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Progressive gait ataxia ORPHA:309263
Colchicine Poisoning
Alopecia, Leukocytosis, Diarrhea, Vomiting, Nausea ORPHA:31824
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Brittle hair, Short stature, Feeding difficulties in infancy, Submucous cleft h... OMIM:618891
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Postnatal growth retardat... OMIM:613563
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Bradykinesia, Constipation, Gait imbalance, Nausea ORPHA:2828
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia, Nail dystrophy, Nail dysplasia, Intractable diarr... OMIM:226730
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... OMIM:608615
Sandhoff Disease
Ataxia, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macroglossia, Hyperhidrosi... OMIM:268800
Ethylmalonic Encephalopathy
Diarrhea, Ataxia ORPHA:51188
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Abdominal pain, Hematemesis, Leukocytosis, Dia... ORPHA:340
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Nasogastric tube feed... OMIM:106260
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short stature, Thick hair, Postnatal growth retardation, Feeding difficulties, Coarse hair, High ... ORPHA:357074
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... ORPHA:100078
Citrullinemia Type Ii
Diarrhea, Vomiting, Hepatocellular carcinoma, Lethargy, Delayed menarche, Pancreatitis ORPHA:247585
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Encopresis, Unsteady gait, Feeding difficu... OMIM:616682
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Growth delay, S... OMIM:614114
Lethal Kniest-Like Dysplasia
Protuberant abdomen, Severe short-limb dwarfism, Cleft palate, Mesomelic/rhizomelic limb shortening ORPHA:2347
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Abdominal pain, Lymphadenitis, Meningitis, Increa... ORPHA:449395
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Diarrhea, Limb ataxia, Constipation, Truncal ataxia, Episodic vomiting OMIM:105210
Carcinoid Syndrome
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Episodic abdomi... ORPHA:100093
Fibrochondrogenesis 1
Rhizomelia, Hypoplastic toenails, Cleft palate, Protuberant abdomen, Hypoplastic fingernail OMIM:228520
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting, Ataxia OMIM:560000
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Pyloric stenosis, Fine hair, Athetosis, Sparse hair, Intrauterine growth retardation OMIM:614438
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Cervical lymphadenopathy, Chronic diarrhea, Chronic ... OMIM:142680
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Hepatic failure, Abdominal distention, Lethargy OMIM:617156
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Short stature, Protruding tongue, Postnatal growth retardation, Unsteady gait, Lon... OMIM:212066
Agel Amyloidosis
Tongue atrophy, Ataxia, Xerostomia, Abnormal spleen morphology, Nail dystrophy, Sparse hair ORPHA:85448
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Elevated circulating growth hormone concentration, Pituitary c... ORPHA:276152
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Short stature, Slow-growing hair, Highly arched eyebrow, Feeding difficulties in infa... OMIM:617506
Glass Syndrome
Broad-based gait, Short stature, Cleft palate, High palate, Long eyelashes, Nail dysplasia, Spars... OMIM:612313
Blue Diaper Syndrome
Decreased circulating T4 concentration, Diarrhea ORPHA:94086
Cystic Fibrosis
Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Ileus, Diarrhea, Recurren... OMIM:219700
Greenberg Dysplasia
Rhizomelia, Hepatosplenomegaly, Severe short-limb dwarfism, Pancreatic islet-cell hyperplasia, Di... OMIM:215140
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Hypohidrosis, Hy... OMIM:257980
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Proportionate short stature, Feeding difficulties in infancy, Diarrhea, Vo... ORPHA:71212
Chronic Graft Versus Host Disease
Pancytopenia, Alopecia, Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Rec... ORPHA:99921
Meckel Syndrome 14
Abdominal distention, Protuberant abdomen OMIM:619879
Trichorhinophalangeal Syndrome Type 1
Short stature, Sparse eyelashes, Sparse eyebrow, Leukonychia, High palate, Sparse hair, Fragile n... ORPHA:77258
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen OMIM:151210
Yao Syndrome
Diarrhea, Xerostomia, Abdominal pain OMIM:617321
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Intrauterine growth retardation, Sparse hair OMIM:610756
Arboleda-Tham Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Hig... OMIM:616268
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis ORPHA:100976
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Feeding difficulties, Small pituitary gland, Disproportionate short-limb short stature, Protubera... OMIM:619479
Monosomy 18Q
Short stature, Bilateral cryptorchidism, Low anterior hairline, Growth delay, Choreoathetosis, Hi... ORPHA:1600
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Peritonitis, Gastroin... ORPHA:727
Kaufman Oculocerebrofacial Syndrome
Short stature, Intestinal malrotation, Feeding difficulties in infancy, Sparse eyebrow, Recurrent... OMIM:244450
Olmsted Syndrome 1
Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un... OMIM:614594
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Plague
Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, Unsteady gait, Lymphadenitis, Ente... ORPHA:707
Cranioectodermal Dysplasia 1
Recurrent respiratory infections, Rhizomelia, Thin nail, Short nail, Slow-growing hair, High, nar... OMIM:218330
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Constipation, High pal... OMIM:162300
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre... ORPHA:2538
Kawasaki Disease
Nausea and vomiting, Abnormality of nail color, Abdominal pain, Meningitis, Leukocytosis, Diarrhe... ORPHA:2331
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Vomiting OMIM:610768
Familial Gestational Hyperthyroidism
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... ORPHA:424
Mandibuloacral Dysplasia
Alopecia, Postnatal growth retardation, Abnormal tongue morphology, High palate, Sparse hair, Hyp... ORPHA:2457
Encephalopathy, Ethylmalonic
Chronic diarrhea, Ataxia, Feeding difficulties OMIM:602473
Farber Disease
Short stature, Chronic diarrhea, Recurrent upper respiratory tract infections, Hepatosplenomegaly... ORPHA:333
Opsismodysplasia
Recurrent respiratory infections, Rhizomelia, Disproportionate short-limb short stature, Protuber... OMIM:258480
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Hypohidrosis, Fine ... OMIM:613451
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Protuberant abdomen, High palate, Cleft palate OMIM:616038
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Thyroid hypoplasia, Absent nipple, Short stature, Aplasia of th... OMIM:620186
Short Syndrome
Sparse hair, Alopecia, Severe short stature, Poor appetite ORPHA:3163
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Enterokinase Deficiency
Diarrhea OMIM:226200
Macs Syndrome
Alopecia, Short stature, Sparse eyebrow, Cryptorchidism, High palate, Recurrent aphthous stomatit... OMIM:613075
Intellectual Developmental Disorder, Autosomal Dominant 68
Feeding difficulties, Recurrent infections, Gastroesophageal reflux, Constipation, High palate, S... OMIM:619934
Hurler Syndrome
Recurrent respiratory infections, Short stature, Splenomegaly, Chronic diarrhea, Feeding difficul... ORPHA:93473
Coccidioidomycosis
Coccidioidal meningitis, Eosinophilia, Abscess, Abnormality of the spleen, Invasive fungal infect... ORPHA:228123
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Short stature, Polycystic ovaries OMIM:268020
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hyperhidrosis, Hepatosplenomegal... ORPHA:96123
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Chromosome 5P13 Duplication Syndrome
Sparse hair, High palate, Low posterior hairline OMIM:613174
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Short uvula, Cleft palate, Fine hair, High palate, Nail dysplasia, Sparse hair, Ap... OMIM:614091
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis, Diarrhea, Constipation OMIM:608654
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Proportionate short statur... OMIM:234100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Hypoplastic toenails, Diarrhea, Narrow palate, High palate, Vomi... OMIM:608836
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair OMIM:224900
Abetalipoproteinemia
Reticulocytosis, Broad-based gait, Ataxia, Acanthocytosis, Chronic diarrhea, Dysmetria, Gait atax... ORPHA:14
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Sparse eyelashes, Sparse eyebrow, Feeding difficulties, Small nail, Sparse hair, H... OMIM:250410
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair ORPHA:69735
De Barsy Syndrome
Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Cryptorchidism, ... ORPHA:2962
Congenital Myopathy 20
Chronic diarrhea, High palate OMIM:620310
Mowat-Wilson Syndrome
Short stature, Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Abdominal distentio... OMIM:235730
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, Un... ORPHA:457279
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Hyposegmentation of neutrophil nuclei, Disproportionate short-limb short stature, Pro... OMIM:618019
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Sparse eyelashes, Absent eyelashes, C... OMIM:268400
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constip... ORPHA:500055
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Highly arched eyebrow, Cryptorchidism, Chronic diarrhea, Chro... OMIM:619005
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Short stature, Sparse lateral eyebrow OMIM:190351
Hardikar Syndrome
Vomiting, Short stature, Cleft soft palate, Abdominal pain, Hepatosplenomegaly, Decreased liver f... OMIM:301068
Marshall Syndrome
Short stature, Sparse eyelashes, Sparse eyebrow, Cleft palate, Hypohidrosis, High palate, Sparse ... ORPHA:560
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair ORPHA:659
Ogden Syndrome
Iron deficiency anemia, High palate, Vomiting, Polycythemia, Short stature, Sparse eyebrow, Crypt... OMIM:300855
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Decreased testicular size, Sparse body hair ORPHA:2234
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgG4 level, Orchitis, Increased circulating IgE level, Abnorm... ORPHA:449563
Ruijs-Aalfs Syndrome
Premature graying of hair, Short stature, Sparse hair, Hepatocellular carcinoma OMIM:616200
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting, Lethargy ORPHA:173
Rodrigues Blindness
Sparse hair, Short stature, Fine hair OMIM:268320
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hy... ORPHA:99889
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroiditis, Enlar... ORPHA:79078
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Short stature, Fragile nails OMIM:242150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Chronic diarrhea, Feeding difficulties, Dysphagia, Anemia OMIM:620358
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... ORPHA:2108
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Bowel urgency, Poor appetite, Anorexia, Elevated circulati... ORPHA:97287
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Narrow palate, High palate, Disproportionate short-limb short stature, Spa... OMIM:618644
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, High, narrow palate, Nasogastric tube feeding in infancy, Decreased circulati... ORPHA:369837
Atelosteogenesis Type Ii
Bilateral cleft palate, Rhizomelia, Cleft palate, Rhizomelic arm shortening, Protuberant abdomen ORPHA:56304
Marshall-Smith Syndrome
Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Pyloric stenosis, C... OMIM:602535
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Patchy alopecia, Spar... OMIM:302960
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Anal fissure, Perianal dermatitis, Bloody diarrhea, Horizont... ORPHA:294023
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Growth delay, High palate, Sparse hair OMIM:608612
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... ORPHA:2232
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Submucous cleft hard pa... ORPHA:1071
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Sparse scalp hair, Absence of Stensen duct, Decreased response ... OMIM:129900
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Cleft palate... ORPHA:2710
Stuve-Wiedemann Syndrome 1
Short stature, Hyperhidrosis, Feeding difficulties, Recurrent infections, Smooth tongue, Dysphagi... OMIM:601559
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Hypopigmentation of hair, Malabsorption, Feedin... ORPHA:565
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Cryptorchidism, Cleft palate, Coarse hair, Gastroesophageal reflux, ... OMIM:607812
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Protuberant abdomen, Protruding tongue OMIM:200600
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence ORPHA:330001
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting, Anemia ORPHA:230
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Thrombocytopenia, Bloody diarrh... ORPHA:464321
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Tracheoesophageal fistula, Sparse body hair ORPHA:3068
Atelosteogenesis, Type I
Rhizomelia, Cryptorchidism, Cleft palate, Disproportionate short-limb short stature, Protuberant ... OMIM:108720
Mednik Syndrome
Jejunal atresia, Diarrhea, Growth delay, Volvulus, Microcolon OMIM:609313
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Short stature, Cryptorchidism, Feeding difficulties, Loose anagen ... OMIM:607721
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Anal atresia OMIM:271520
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Poor appetite, Diarrhea, Growth delay, Vomiting, Constipation ORPHA:18
Steinert Myotonic Dystrophy
Alopecia, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, A... ORPHA:273
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Alopecia, Severe short stature, Aganglionic megacolon, Absent e... ORPHA:2273
Scarf Syndrome
Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Sparse hair ORPHA:3134
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea, Hyperhidrosis ORPHA:43116
Malakoplakia
Abdominal pain, Orchitis, Follicular hyperplasia, Diarrhea, Neoplasm of the rectum, Neoplasm of t... ORPHA:556
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Short stature, Cryptorchidism, Recurrent infections, High palate, Sparse hair OMIM:300661
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short stature, Postnatal growth retardation, Cryptorchidism, Hepatosplenomegaly, Growth delay, Ma... ORPHA:96334
Eisenmenger Syndrome
Brain abscess, Abdominal distention, Hypochromic microcytic anemia, Iron deficiency anemia, Incre... ORPHA:97214
Cerebrotendinous Xanthomatosis
Ataxia, Diarrhea, Pseudobulbar paralysis, Difficulty walking, Cholelithiasis OMIM:213700
Congenital Disorder Of Glycosylation, Type It
Short stature, Chronic diarrhea, Cleft palate, Growth delay, Vomiting, Delayed puberty, Recurrent... OMIM:614921
Cockayne Syndrome B
Anhidrosis, Dry hair, Severe short stature, Ataxia, Postnatal growth retardation, Splenomegaly, C... OMIM:133540
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Cockayne Syndrome A
Anhidrosis, Dry hair, Short stature, Ataxia, Splenomegaly, Cryptorchidism, Severe postnatal growt... OMIM:216400
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Growth delay, Hypoplastic nipple... OMIM:230740
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Rhizomelia, Growth delay, Small nail, Nail dysplasia, Sparse hair, Breast hypoplasia OMIM:614813
Gitelman Syndrome
Nausea and vomiting, Neoplasm of the pancreas, Abdominal pain, Diarrhea, Hyperhidrosis, Parathyro... ORPHA:358
Alg9-Cdg
Villous atrophy, Rhizomelia, Diarrhea, Low posterior hairline, Hypoplasia of the ovary, Gastroeso... ORPHA:79328
Reactive Arthritis
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Inflammation of the large intestine... ORPHA:29207
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Recurrent respiratory infections, Sparse scalp hair, Mild postnatal growth ret... OMIM:150230
Weill-Marchesani Syndrome 2
Short stature, Proportionate short stature, Narrow palate, High palate, Protuberant abdomen OMIM:608328
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Ataxia, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Lobulated to... ORPHA:2750
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Short stature, Fine hair OMIM:257850
Erythroderma Desquamativum
Diarrhea ORPHA:314
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... OMIM:608156
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Short stature, Anterior pituitary hypoplas... OMIM:619841
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Broad lateral eyebrow, Curly hair, Gastroparesis, Proportionate short stature... ORPHA:500150
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Short stature, Rectal prolapse, Pseudohypoparathyroidism, Fee... OMIM:617157
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting ORPHA:348
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Scalp-Ear-Nipple Syndrome
Short stature, Sparse axillary hair, Sparse pubic hair, Hypohidrosis, Fine hair, Patchy alopecia,... OMIM:181270
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Highly arched eyebrow, Cleft palate, Gait ataxia, Acute lymphoblastic leukemia,... OMIM:280000
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen, Protruding tongue ORPHA:50945
Teebi-Shaltout Syndrome
Short stature, Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairli... OMIM:272950
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Diarrhea, Dysmetria, Feeding difficulties, Gait ataxia, Dysdiadochokinesis, Vo... OMIM:606721
Atresia Of Urethra
Abdominal distention, Recurrent urinary tract infections ORPHA:105
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Coarse hair, High palate, Sparse hair ORPHA:50814
Orofaciodigital Syndrome I
Dry hair, Alopecia, Short stature, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue no... OMIM:311200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Short stature, Anterior pituitary hypoplasia, Splenomegaly, Abd... OMIM:619534
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Aspartylglucosaminuria
Recurrent respiratory infections, Short stature, Diarrhea, Vacuolated lymphocytes, Macroglossia, ... OMIM:208400
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Cranioectodermal Dysplasia 2
Short stature, Rhizomelia, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, C... OMIM:613610
Roberts Syndrome
Postnatal growth retardation, Cryptorchidism, Cleft palate, High palate, Severe intrauterine grow... ORPHA:3103
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Short stature, Decreased re... OMIM:615873
Oculodentodigital Dysplasia
Dry hair, Ataxia, Slow-growing hair, Cleft palate, Fine hair, High palate, Sparse hair, Fragile n... OMIM:164200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Short stature, Cleft palate OMIM:615349
Acute Liver Failure
Gastrointestinal hemorrhage, Ataxia, Diarrhea, Vomiting, Adrenal insufficiency, Nausea, Thrombocy... ORPHA:90062
Weaver Syndrome
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair OMIM:277590
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair OMIM:312830
Cranioectodermal Dysplasia 3
Rhizomelia, Short nail, Short stature, Broad nail, Fine hair, Sparse hair OMIM:614099
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Hyperhidrosis OMIM:614441
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Abdominal distention, Cryptorchidism, Ectopic anus, Disproportionate short-li... ORPHA:93271
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Cryptorchidism, Fi... ORPHA:444072
Zttk Syndrome
Absent gallbladder, Curly hair, Short stature, Feeding difficulties in infancy, Sparse eyebrow, S... OMIM:617140
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow OMIM:609460
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Breast hypoplasia, Cleft palate, Sparse body hair, Hypoplasia of the ovary, Delay... ORPHA:432
Mandibuloacral Dysplasia Progeroid Syndrome
Short stature, Elevated hemoglobin A1c, Postnatal growth retardation, Sparse eyebrow, High palate... OMIM:619127
African Trypanosomiasis
Alopecia, Akinesia, Splenomegaly, Diarrhea, Hepatosplenomegaly, Choreoathetosis, Abnormal prolact... ORPHA:3385
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anu... OMIM:151050
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair, Moderate postnatal growth retardation OMIM:118650
Chime Syndrome
Sparse hair, Fine hair, Cleft palate, Acute leukemia ORPHA:3474
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Hyperthyroidism, Short stature, Ataxia, De... ORPHA:3455
Costello Syndrome
Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Pyloric stenosis, Macroglossi... OMIM:218040
Bartter Syndrome, Type 2, Antenatal
Short stature, Diarrhea, Hyperaldosteronism, Constipation, Vomiting, Impaired platelet aggregation OMIM:241200
Myhre Syndrome
Ataxia, Short stature, Cryptorchidism, Cleft palate, Fine hair, Birth length less than 3rd percen... OMIM:139210
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Hypohidr... ORPHA:548
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Dys... OMIM:150400
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Growth delay, Vomiting ORPHA:47159
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anorexia, Abdominal pain, Increased circulating IgG level, Normochromic anemia... ORPHA:91500
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Short stature, Diarrhea, Hyperaldosteronism, Constipation, Vomiting OMIM:601678
Leptospirosis
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Lymphadenopathy, Meningitis, Thrombocyto... ORPHA:509
Renpenning Syndrome 1
Brittle hair, Short stature, Cleft palate, High palate, Sparse hair, Poor suck, Decreased testicu... OMIM:309500
Cocaine Intoxication
Abdominal pain, Intestinal perforation, Bloody diarrhea, Hyperhidrosis, Gastrointestinal infarcti... ORPHA:90068
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Abnormal fingernail morphology, Hypohidrosis, Breast aplasia,... ORPHA:2036
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Disproportionate short statu... OMIM:210710
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Sparse hair, Br... ORPHA:920
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Short stature, Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged pol... ORPHA:90796
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Short stature, Intestinal malrotation, Supernumerary nipple, Hiatus he... OMIM:305600
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Occipital Horn Syndrome
Hiatus hernia, Chronic diarrhea, Growth delay, Coarse hair, High palate, Pili torti OMIM:304150
Scorpion Envenomation
Acute pancreatitis, Ataxia, Abdominal pain, Diarrhea, Hyperhidrosis, Vomiting ORPHA:466677
Mucopolysaccharidosis Type 2, Severe Form
Short stature, Recurrent ear infections, Splenomegaly, Chronic diarrhea, Recurrent upper respirat... ORPHA:217085
Menke-Hennekam Syndrome 1
Cryptorchidism, Recurrent upper respiratory tract infections, Cleft palate, Feeding difficulties,... OMIM:618332
Mucopolysaccharidosis Type 2, Attenuated Form
Short stature, Recurrent ear infections, Splenomegaly, Chronic diarrhea, Recurrent upper respirat... ORPHA:217093
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Congenital hypothyroidism, Feeding difficulties, Pancreatic aplasia, Apla... ORPHA:2255
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Cryptorchidism, ... ORPHA:2834
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea, Hyperhidrosis OMIM:167100
Mucopolysaccharidosis Type 2
Short stature, Recurrent ear infections, Splenomegaly, Chronic diarrhea, Recurrent upper respirat... ORPHA:580
Branchiooculofacial Syndrome
Supernumerary nipple, Malrotation of colon, Pyloric stenosis, Postnatal growth retardation, Crypt... OMIM:113620
Premature Aging Syndrome, Penttinen Type
Sparse hair OMIM:601812
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Abnormal eyelash morphology, Chronic diarrhea, Gastroesophageal ... ORPHA:3164
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis ORPHA:363618
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Short stature, Abnormal hair morphology, Abnormal hair whorl, P... ORPHA:79474
Chikungunya
Diarrhea, Cervical lymphadenopathy, Lymphadenopathy, Vomiting, Infectious encephalitis ORPHA:324625
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Severe short stature, Cryptorchidism, Submucous cleft hard palate, Loss of eyelashes, C... ORPHA:2636
Sapho Syndrome
Abdominal pain, Malabsorption, Chronic diarrhea, Inflammation of the large intestine, Steatorrhea ORPHA:793
Cerebrotendinous Xanthomatosis
Ataxia, Chronic diarrhea, Gait disturbance, Cholelithiasis, Hypothyroidism ORPHA:909
Pallister-Killian Syndrome
Anteriorly placed anus, Sparse hair, Bifid uvula, Alopecia, Rhizomelia, Mesomelic/rhizomelic limb... OMIM:601803
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Choreoathetosis, Sparse hair, Decreased testicular size OMIM:241080
Restrictive Dermopathy
Short nail, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyebrow, Submucous cleft hard... ORPHA:1662
Hawkinsinuria
Sparse hair OMIM:140350
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Hypoplastic nipples, Sparse hair, Hypop... OMIM:200110
Nmda Receptor Encephalitis
Ovarian teratoma, Diarrhea, Choreoathetosis, Vomiting, Testicular teratoma ORPHA:217253
Primrose Syndrome
Sparse scalp hair, Ataxia, Short stature, Absent facial hair, Bilateral cryptorchidism, Cryptorch... OMIM:259050
Neurocardiofaciodigital Syndrome
Sparse hair, High palate, Sparse eyebrow, Short stature OMIM:619869
Wrinkly Skin Syndrome
Short stature, Short nail, Cryptorchidism, High palate, Sparse hair, Intrauterine growth retardat... OMIM:278250
22Q11.2 Deletion Syndrome
Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Postnatal growth retardation, Cryptorchidism, Cleft palate, High palate, Severe... OMIM:268300
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400

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 Itpkb

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 Itpkb.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Itpkbtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Itpkbtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter