banner
Genes Phenotypes Help, News, Blog

Gene: Tg MGI:98733

Log in to follow

Gene Summary

Name:
thyroglobulin
Synonyms:
Tgn

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
improved glucose tolerance Tgem1(IMPC)J HOM   Early adult 1.07×10-05
abnormal auditory brainstem response Tgem1(IMPC)J HOM   Early adult 5.91×10-05
decreased vertical activity Tgem1(IMPC)J HOM   Early adult 6.48×10-08
male infertility Tgem1(IMPC)J HOM Early adult 0.00
increased bone mineral content Tgem1(IMPC)J HOM Early adult 5.04×10-15
increased fasting circulating glucose level Tgem1(IMPC)J HOM Early adult 1.90×10-21
decreased exploration in new environment Tgem1(IMPC)J HOM Early adult 1.08×10-06
decreased locomotor activity Tgem1(IMPC)J HOM Early adult 9.71×10-06
increased grip strength Tgem1(IMPC)J HOM Early adult 1.57×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

View images

Human diseases caused by Tg mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Dyshormonogenesis 3
Goiter, Thyroid carcinoma, Compensated hypothyroidism, Increased T3/T4 ratio OMIM:274700
Familial Thyroid Dyshormonogenesis
Goiter, Positive perchlorate discharge test, Decreased circulating T4 concentration, Elevated cir... ORPHA:95716
Autoimmune Thyroid Disease, Susceptibility To, 3
Thyroiditis OMIM:608175

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Dyshormonogenesis 3
Goiter, Thyroid carcinoma, Compensated hypothyroidism, Increased T3/T4 ratio OMIM:274700
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concen... OMIM:274500
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism OMIM:274800
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Goiter, Increased circulating free T4 concentration, Impaired sens... OMIM:188570
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... OMIM:212050
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Goiter, Papillary thyroid carcinoma OMIM:616534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... OMIM:618982
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:615767
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... OMIM:618944
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Thyroid hypoplasia, Hypot... OMIM:275200
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling OMIM:600121
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Small for gestational age, Increased circulating IgE level, Failure to ... OMIM:617241
Blepharochalasis And Double Lip
Goiter OMIM:109900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Failure to thrive in infancy, Decreased circulating IgG level, B... OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, Failure to thrive,... ORPHA:277
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Goiter, Thyroid nodule, Ovarian thecoma OMIM:180295
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... ORPHA:169154
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... OMIM:619598
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:319487
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Abnormal T cell morphology, Failure to thrive, Absent circulating ... OMIM:613501
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgA, Decreased c... OMIM:618969
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... OMIM:274300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 co... OMIM:613239
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:97290
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism OMIM:274400
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Decrease... OMIM:615513
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Colitis, Decr... OMIM:619281
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Bangstad Syndrome
Goiter, Small for gestational age, Primary gonadal insufficiency, Pancytopenia, Insulin-resistant... OMIM:210740
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... OMIM:118651
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level OMIM:247800
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... OMIM:275000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Patellar disl... OMIM:147891
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Short toe, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Osebold-Remondini Syndrome
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Mesomelia, Broad finger, ... OMIM:112910
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... ORPHA:70593
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Failure to thrive in inf... OMIM:619510
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... ORPHA:2098
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Aga... OMIM:613500
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Omphalocele,... ORPHA:3329
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Ascher Syndrome
Goiter, Hypothyroidism ORPHA:1253
Thyroid Lymphoma
Hypothyroidism, Goiter, Hyperthyroidism, Hashimoto thyroiditis ORPHA:97285
Immunodeficiency 95
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level OMIM:619773
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... ORPHA:240
Leri-Weill Dyschondrosteosis
High palate, Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morpholo... OMIM:127300
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... OMIM:249700
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Goiter, Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Abno... ORPHA:95715
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... ORPHA:169079
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Permanent Congenital Hypothyroidism
Goiter, Thyroid dysgenesis, Hypothyroidism ORPHA:226292
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... ORPHA:1972
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Failure to thrive, Panhypogammaglobulinemia,... OMIM:601457
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, Eosinophilia, Failure to thr... OMIM:602450
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Autoimmune thrombocytopenia, Increased propo... OMIM:618534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... OMIM:202700
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Familial Thyroid Dyshormonogenesis
Goiter, Positive perchlorate discharge test, Decreased circulating T4 concentration, Elevated cir... ORPHA:95716
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Immunodeficiency 15B
Reduced natural killer cell count, Agammaglobulinemia, Failure to thrive, Decreased lymphocyte pr... OMIM:615592
Resistance To Thyrotropin-Releasing Hormone Syndrome
Goiter, Increased circulating prolactin concentration, Decreased circulating T4 concentration, El... ORPHA:99832
Pendred Syndrome
Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism ORPHA:705
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 concentra... OMIM:301035
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Decreased specific anti-polysaccha... OMIM:606367
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Colitis, Ulcerative coli... OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism OMIM:617577
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... OMIM:607078
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing OMIM:246570
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Increased circulating antibody level, Failure t... OMIM:615285
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism, Increased circulating free T3, Increased circulatin... OMIM:609152
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Hemolytic anemia, Increased circulating antibody level, Leukemia,... OMIM:614470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min... OMIM:617006
Beukes Hip Dysplasia
Hip dysplasia, Avascular necrosis of the capital femoral epiphysis, Irregular capital femoral epi... OMIM:142669
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... OMIM:605274
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia, Decreased circulating antibody level OMIM:616873
Mu-Heavy Chain Disease
Abnormal B cell count, Increased circulating antibody level, Anemia, Splenomegaly, Weight loss ORPHA:100024
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... OMIM:619632
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Flat distal femoral epiphysis, Broad femoral neck, Short femoral neck,... OMIM:609324
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Maffucci Syndrome
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Parathyroid adenoma, O... ORPHA:163634
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Immunodeficiency 48
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Failure to thrive, Splenomegaly OMIM:269840
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... OMIM:243700
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Anemia, Abnormal pelvic girdle bone morphology, Diaphyseal thicke... ORPHA:1802
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Complement deficiency OMIM:613791
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Ulcerative colitis, Anemia OMIM:619398
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:99819
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Immunodeficiency 61
Decreased circulating total IgM, Frequent Giardia lamblia infestation, Colon cancer, Decreased ci... OMIM:300310
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Medullary Thyroid Carcinoma
Elevated calcitonin, Nodular goiter, Pheochromocytoma, Medullary thyroid carcinoma, Primary hyper... ORPHA:1332
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Chronic diarrhea... OMIM:614700
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Recurrent aspiration pneumonia OMIM:300484
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Decreased circulating free T4 concentration, Ectopic thyroid, Elevated circulat... OMIM:225250
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... OMIM:612447
Igg4-Related Thyroid Disease
Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hashimoto thyroiditis... ORPHA:64744
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, T lymphoc... OMIM:615617
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer... OMIM:266600
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal striations, Short metacarpal, Abnormal pelvic girdle bone morphology, Sho... OMIM:250460
Femoral-Facial Syndrome
Inguinal hernia, Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot pol... ORPHA:1988
Genetic Transient Congenital Hypothyroidism
Goiter, Abnormal radioactive iodine uptake test result, Decreased circulating T4 concentration, E... ORPHA:226316
Endove Syndrome, Limb-Only Type
3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate shortening of the tib... OMIM:619217
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Aplastic anemia, Colitis, Splenomegaly, Ac... OMIM:300635
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:424
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... OMIM:102700
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... ORPHA:449400
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Granuloma, Colitis, Abdominal pain, Hepatosplenomegaly, Lymphopenia, Thrombocyt... OMIM:619802
Coxopodopatellar Syndrome
Hip dysplasia, Abnormality of the knee, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Increased circulating IgE level, Neutropenia, Eosinophilia, ... OMIM:304790
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter ORPHA:142
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Goiter, Compensated hypothyroidism, Decrease... ORPHA:90673
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Colitis, Decreased proportion of c... OMIM:616098
Erythrocytosis, Familial, 5
Elevated circulating erythropoietin concentration, Increased hematocrit, Polycythemia, Increased ... OMIM:617907
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Cystic acne, Knee flexion contracture, Sterile arthritis, Colitis, Arthritis,... OMIM:604416
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Cutaneous abscess, Eosinophilia OMIM:147060
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Failure to... OMIM:617514
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Cleft palate, ... ORPHA:440354
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Neutropenia, Protein-losing enteropathy, Decr... OMIM:613502
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Decreased circulating total IgM, Small for gestational age, Feeding difficulties, ... OMIM:607143
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Congenital Atransferrinemia
Anemia, Hypothyroidism ORPHA:1195
Erythrocytosis, Familial, 4
Elevated circulating erythropoietin concentration, Increased hematocrit, Polycythemia, Increased ... OMIM:611783
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... ORPHA:226313
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Ulcerativ... OMIM:614878
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Hip dysplasia, Increased circulating IgE level, Hypoplastic iliac... ORPHA:1858
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Increased circulating antibody level, Nonketotic hypoglycemia, Reactive hyp... ORPHA:411593
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... ORPHA:859
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Leukopenia... ORPHA:443811
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Ivic Syndrome
Short 1st metacarpal, Anal atresia, Intestinal malrotation, Absent thumb, Short thumb, Preaxial p... OMIM:147750
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
High palate, Inguinal hernia, Feeding difficulties, Hip dysplasia, Limb undergrowth, Knee flexion... OMIM:616809
Papular Xanthoma
Histiocytosis ORPHA:158008
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Agammaglobulinemia 7, Autosomal Recessive
Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia, Neutropenia OMIM:615214
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Decreased proportion of memory B cells, Lipodystrophy, Skin rash... OMIM:618048
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia, Failure to thrive, Agammaglobulinemia OMIM:619693
Distal Arthrogryposis Type 1
Camptodactyly of finger, Ulnar deviation of finger, Abnormal hip bone morphology, Rocker bottom f... ORPHA:1146
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Autoinflammation With Infantile Enterocolitis
Skin rash, Anemia, Villous atrophy, Reduced natural killer cell activity, Reduced natural killer ... OMIM:616050
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... OMIM:616005
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Monkey wrench femoral ne... OMIM:617719
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Cowden Syndrome 7
Goiter, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditis OMIM:616858
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:601859
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Malabsorption, Cutaneous anergy, Villous atrophy, Colitis, Neutropenia, Protracted d... OMIM:209920
Immunodeficiency 22
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ... OMIM:615758
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Sensorineural hearing impairment, Male infertility OMIM:608653
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Short metacarpal, Double-layered patella, Hypoplasia of the femoral head, Talipes ... OMIM:226900
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Atelosteogenesis Type Ii
Increased femoral anteversion, Rhizomelia, Cleft palate, Micromelia, Hypoplastic cervical vertebr... ORPHA:56304
Spermatogenic Failure 17
Male infertility OMIM:617214
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased circulating total IgM, Decreased proportion ... ORPHA:331206
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Pediatric-Onset Graves Disease
Graves disease, Goiter, Neutropenia in presence of anti-neutropil antibodies, Puberty and gonadal... ORPHA:525731
Pelviscapular Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic scapulae, Short femur, Mesomelic leg sh... ORPHA:93333
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, T... OMIM:613101
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Abnormality of the knee, Dysplasia of the femoral head, Wide distal femoral metaph... ORPHA:99642
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Metaphyseal Anadysplasia 2
Genu varum, Metaphyseal widening, Micromelia, Short femoral neck, Metaphyseal irregularity, Bowin... OMIM:613073
Immunodeficiency 23
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Eosinophilia, Increased ... OMIM:615816
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Optic disc pallor, Ataxia OMIM:618970
Immunodeficiency 43
Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen... OMIM:241600
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Bilateral sensorineural hearing i... OMIM:611102
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... OMIM:135750
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Perianal abscess, Enterocolitis, Pyoderma, Crohn's disease, Folliculitis OMIM:613148
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ... OMIM:619652
Orofaciodigital Syndrome Iv
Short finger, Lobulated tongue, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia... OMIM:258860
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... ORPHA:93356
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Abnormal calcium-phosphate regulating ... ORPHA:457059
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Elevated calcitonin, Hyperparathyroidism, Increased circulating corti... OMIM:171400
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia, Cutaneous abscess... OMIM:618282
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, High palate, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodac... OMIM:201170
Immunodeficiency With Hyper-Igm, Type 1
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Decrea... OMIM:308230
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Cowden Syndrome 5
Goiter, Hyperthyroidism, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Thyroid... OMIM:615108
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Reduced natural killer cell activity, Increased circulating Ig... OMIM:308240
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... ORPHA:85170
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... OMIM:618261
Netherton Syndrome
Increased circulating IgE level, Hypereosinophilia, Decreased circulating IgG level, Failure to t... OMIM:256500
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... OMIM:209950
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosis, Bloody diarrhea, Intest... OMIM:243150
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o... OMIM:615559
Wolfram-Like Syndrome
Progressive cerebellar ataxia, Abnormal pinna morphology, Diabetes mellitus, Anxiety, Dementia, G... ORPHA:411590
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, An... ORPHA:3344
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Short toe, ... ORPHA:79106
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... ORPHA:3261
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Pseudoachondroplasia
Wind-swept deformity of the knees, Increased laxity of ankles, Osteoarthritis, Irregular epiphyse... ORPHA:750
Ankylosing Vertebral Hyperostosis With Tylosis
Palmoplantar keratoderma, Abnormal pelvis bone morphology, Osteoarthritis, Obesity ORPHA:2206
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Short tibia, Cleft palate, Micromelia, Cone-shaped ep... ORPHA:1505
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Omphalocele, Short femur, Bilateral cleft palate, Amelia OMIM:601357
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Ataxia, Abnormal motor evoked potentials, Abnormal auditory evoked potentials... ORPHA:320401
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Failure to thrive, Increased circulating Ig... OMIM:618495
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... OMIM:618986
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Failure to thrive, Increased c... OMIM:618213
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hashimoto thyroiditis, Hypothyroidism ORPHA:83601
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Stomatitis, Skin rash, Recurrent bacterial skin infections, Autoimmune thromb... ORPHA:911
Adult Idiopathic Neutropenia
Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnormal neutrophil count, Monocytos... ORPHA:2688
Cowden Syndrome 6
Goiter, Hyperthyroidism, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Thyroid... OMIM:615109
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Chronic constipation... OMIM:301074
Pseudomyxoma Peritonei
Inflammation of the large intestine, Intestinal obstruction, Abdominal pain, Constipation, Hernia... ORPHA:26790
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:611926
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormal diaphysis morphology, Flexion contracture of toe, Increased cir... ORPHA:3409
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:603909
Slc35A2-Cdg
Camptodactyly of finger, Gastroesophageal reflux, Abnormal long bone morphology, Feeding difficul... ORPHA:356961
Hypothyroidism, Congenital, Nongoitrous, 2
Goiter, Thyroid agenesis, Ectopic thyroid, Decreased circulating T4 concentration, Elevated circu... OMIM:218700
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent infection of the gastrointestinal tract, Decrea... OMIM:605258
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... OMIM:150550
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Short thumb, Hypoplasia of the radius, Talipes, Short 5th finger, Micr... OMIM:227270
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Short distal phalanx of finger, Metaphyseal sclerosis, Genu varum, ... OMIM:156500
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Thrombocytopenia, B l... OMIM:301078
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyte tran... ORPHA:35078
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Cleft palate, Knee dislocation, Fibular aplasia, Multinuc... OMIM:108720
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:614069
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Abnormal metaphysis morphology, Poor appetite, Skin rash, An... ORPHA:324964
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Abdominal pain, Gastritis,... OMIM:619079
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Inflammatory Skin And Bowel Disease, Neonatal, 2
Secretory diarrhea, Increased circulating IgE level, Failure to thrive, Recurrent pneumonia, Pust... OMIM:616069
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... OMIM:211350
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Fractured radius, Decreased fibular diameter, Limb undergrowth, Short ... OMIM:616897
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Abnormal sacroilia... ORPHA:1860
Achondroplasia
Feeding difficulties, Genu varum, Short ribs, Rhizomelia, Ulnar bowing, Short femur, Short femora... OMIM:100800
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia, Anterior uveitis, Ileal ulcer OMIM:616744
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased circulating prolactin concentration, Decreased circulating T4 concentration, In... ORPHA:90674
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... ORPHA:2585
Congenital Hypothyroidism
Goiter, Thyroid dysgenesis, Abnormality of the thyroid gland, Hypogonadism, Hypothyroidism, Anter... ORPHA:442
Spermatogenic Failure 25
Cryptozoospermia, Male infertility, Non-obstructive azoospermia, Early spermatogenesis maturation... OMIM:617960
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Cognitive impairment, Azoospermia, Male infert... ORPHA:276183
Deafness-Infertility Syndrome
Azoospermia, Sensorineural hearing impairment, Male infertility ORPHA:94064
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Duodenitis, Villous atrophy, Failure to thrive, Blo... OMIM:614328
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Langer Mesomelic Dysplasia
High palate, Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic li... ORPHA:2632
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... ORPHA:276
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Bifid uvula, Short tibia, Cleft palate... OMIM:268305
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Thyroid follicular hyperplasia, Pheochromocyto... OMIM:160980
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... OMIM:301081
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, High palate, Short tibia, Cleft palate, Toe syndactyly, Recurren... OMIM:258865
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Cowden Syndrome 1
Goiter, Hyperthyroidism, Ovarian carcinoma, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypo... OMIM:158350
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
5-Oxoprolinase Deficiency
Enterocolitis, Diarrhea, Vomiting, Abdominal pain OMIM:260005
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Elevated circulating erythropoietin concentrati... OMIM:263400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... OMIM:125250
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... ORPHA:166016
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea... OMIM:616100
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Cleft palate, Toe syndactyly, Broad thumb, Tibial bowing, Foot olig... ORPHA:1106
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... OMIM:301000
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:609529
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Truncal obesity, Micromelia, Brachydactyly, F... ORPHA:2928
Immunodeficiency 58
Chronic otitis media, Recurrent cutaneous abscess formation, Atrophic scars, Decreased specific a... OMIM:618131
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... OMIM:619350
Hypochondroplasia
Abnormal metaphysis morphology, Genu varum, Bowing of the long bones, Osteoarthritis, Micromelia,... ORPHA:429
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Mccune-Albright Syndrome
Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas... ORPHA:562
Atelosteogenesis Type I
Malrotation of colon, Abnormality of fibula morphology, Limb undergrowth, Rhizomelia, Abnormal os... ORPHA:1190
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Orofaciodigital Syndrome Vi
Preaxial foot polydactyly, Cleft palate, Toe syndactyly, Fibular aplasia, 11 pairs of ribs, Lobul... OMIM:277170
Stuve-Wiedemann Syndrome 1
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... OMIM:601559
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism... OMIM:614450
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Thrombo... ORPHA:507
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Bron... OMIM:601495
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Immunodeficiency 46
Intermittent thrombocytopenia, Anemia, Chronic oral candidiasis, Failure to thrive, Decreased cir... OMIM:616740
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Shor... OMIM:616300
Spermatogenic Failure 30
Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility OMIM:618110
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Abdominal distention, Aganglionic megacolon, Constipa... OMIM:142623
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly,... ORPHA:2643
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diab... OMIM:618858
Spondyloepiphyseal Dysplasia Congenita
Flat acetabular roof, Dysplasia of the femoral head, Cleft palate, Short femur, Short femoral nec... ORPHA:94068
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Rectovaginal fistula, Folli... OMIM:612567
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... OMIM:119100
X-Linked Lymphoproliferative Disease
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... ORPHA:2442
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Atypical scarring of skin, Abdominal pain ORPHA:46487
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... OMIM:228900
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Shox-Related Short Stature
Forearm undergrowth, High palate, Obesity, Lower limb undergrowth, Micrognathia, Short foot, Genu... ORPHA:314795
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Secondary Short Bowel Syndrome
Malabsorption, Steatorrhea, Volvulus, Abdominal distention, Villous atrophy, Aganglionic megacolo... ORPHA:95427
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Facial palsy, Sensorineural hearing impairm... OMIM:617519
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Ataxia, Diabetes mellitus, Senso... ORPHA:1215
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Decreased circulating anti... OMIM:615190
Reticular Dysgenesis
Chronic otitis media, Leukopenia, Skin rash, Malabsorption, Anemia, Abnormality of neutrophils, F... ORPHA:33355
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Gastroesophageal reflux, Hip dysplasia, Abnormal metaphysis morphology, Irregu... ORPHA:93316
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Lead Poisoning
Small for gestational age, Anemia, Abnormality of humoral immunity, Increased circulating IgE lev... ORPHA:330015
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Clubbing, Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Cornea... OMIM:301220
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Abnormal thumb morphology, Abnormal hip bone morphology, Synost... ORPHA:2639
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Anal atresia, Intestinal malrotation, Absent tibia, Preaxial polydactyly, Meta... OMIM:613091
Acromesomelic Dysplasia, Hunter-Thompson Type
Hip dislocation, Short thumb, Abnormally shaped carpal bones, Short metacarpal, Patellar dislocat... ORPHA:968
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Decreased circulating IgA level, Reduced natural killer cell count, ... OMIM:242860
Classic Galactosemia
Oligomenorrhea, Reduced bone mineral density, Decreased fertility in females, Gait disturbance, P... ORPHA:79239
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Malabsorption, Colitis, Cachexia, Ga... ORPHA:37042
Immunodeficiency 40
Rectal fistula, Intermittent diarrhea, Eosinophilic granuloma, Focal active colitis, Chronic oral... OMIM:616433
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Short ribs, Short ti... OMIM:620076
Familial Multinodular Goiter
Testicular seminoma, Multinodular goiter, Hyperthyroidism, Thyroid carcinoma, Ovarian neoplasm, S... ORPHA:276399
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Failure to thrive in infancy, Increased circulatin... OMIM:617099
Aspergillosis
Increased circulating IgE level, Neutropenia, Eosinophilia ORPHA:1163
Trichohepatoenteric Syndrome 2
Small for gestational age, Chronic hepatitis, Villous atrophy, Colitis, Failure to thrive, Bloody... OMIM:614602
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Eosinophilia, Failure to thrive, Thro... OMIM:603554
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Intractable diarrhea, Colitis, Abdominal pain, Gastritis, Decreased circulat... OMIM:619381
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Metaphyseal striations, Bronchiectasis OMIM:615139
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Cleft palate, Microm... OMIM:251230
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Splenomegaly, Anemia ORPHA:37748
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia, Dysphagia, Failure to thrive, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia, Dysphagia, Failure to thrive, Vomiting OMIM:610247
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Multiple Epiphyseal Dysplasia Type 4
Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Rhizomelia, Short metatar... ORPHA:93307
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Osteoarthritis, Ulnar bowing, C... OMIM:602111
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Rhizomelia, S... OMIM:608940
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abdominal pain, Nausea, Esophageal exudate, Lactose intolerance, Feeding difficulties in infancy,... ORPHA:411696
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Type I diab... OMIM:606176
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Inguinal hernia, Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot po... OMIM:609945
Osteogenesis Imperfecta, Type X
Inguinal hernia, Pyloric stenosis, Rhizomelia, Micromelia, Short femur, Recurrent pneumonia, Tibi... OMIM:613848
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Multiple Endocrine Neoplasia Type 1
Thymoma, Parathyroid carcinoma, Increased circulating cortisol level, Insulinoma, Increased serum... ORPHA:652
Atelosteogenesis Type Iii
High palate, Abnormality of the humerus, Hip dislocation, Absent radius, Short tibia, Patellar di... ORPHA:56305
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Abnormality of body mass index, Maturity-ons... OMIM:616329
Tsh-Secreting Pituitary Adenoma