Gene Summary

Name:
thyroglobulin
Synonyms:
Tgn

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
male infertility Tgem1(IMPC)J HOM Early adult 0.00
increased fasting circulating glucose level Tgem1(IMPC)J HOM Early adult 1.90×10-21
increased grip strength Tgem1(IMPC)J HOM Early adult 1.84×10-09
decreased vertical activity Tgem1(IMPC)J HOM   Early adult 6.48×10-08
prolonged RR interval Tgem1(IMPC)J HOM Early adult 6.18×10-05
decreased exploration in new environment Tgem1(IMPC)J HOM Early adult 1.08×10-06
decreased locomotor activity Tgem1(IMPC)J HOM Early adult 9.59×10-06
abnormal locomotor behavior Tgem1(IMPC)J HOM Early adult 5.61×10-06
increased bone mineral content Tgem1(IMPC)J HOM Early adult 5.04×10-15
improved glucose tolerance Tgem1(IMPC)J HOM   Early adult 1.07×10-05
abnormal coat/ hair morphology Tgem1(IMPC)J HOM Early adult 1.57×10-05
abnormal auditory brainstem response Tgem1(IMPC)J HOM   Early adult 7.49×10-05

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.

Auditory Brain Stem Response

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

7 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
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... 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
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter 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, Impaired sensitivity to thyroid hormone, Increased circulating fre... OMIM:188570
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Abnormal ... OMIM:615767
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Thyroid Cancer, Nonmedullary, 4
Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... OMIM:618982
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Blepharochalasis And Double Lip
Goiter OMIM:109900
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ... OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, F... ORPHA:277
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter OMIM:180295
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... ORPHA:169154
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma ORPHA:319487
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia,... OMIM:613501
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Transient neutropenia, Decreased circulating... OMIM:619707
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Papillary thyroid carcinoma ORPHA:97290
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Achalas... OMIM:618969
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Bangstad Syndrome
Pancytopenia, Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant... OMIM:210740
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Goite... OMIM:275000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Decreased circula... OMIM:619281
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo... OMIM:618108
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
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
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ... OMIM:147891
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, H... OMIM:249700
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Failure to ... OMIM:269840
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Pendred Syndrome
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... OMIM:602450
Immunodeficiency 15B
Decreased circulating antibody level, Failure to thrive, Agammaglobulinemia, Monocytosis, Reduced... OMIM:615592
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... OMIM:606367
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:99819
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Chronic diarrhea, Crohn's dise... OMIM:618394
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Failure to thrive, Thrombocytopenia, Splenomegaly, ... OMIM:615285
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Chronic diarrhea, Complete or... OMIM:607271
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG level, Thrombocy... OMIM:620603
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... OMIM:614470
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph... OMIM:142669
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss ORPHA:100024
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:424
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia, Cleft palate, Syndactyly, Atypi... ORPHA:294975
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Failure to thri... OMIM:304790
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... OMIM:614700
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Pituitary ad... ORPHA:163634
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Abnormal radi... ORPHA:226316
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Anemia, Leukocytosis OMIM:619398
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter ORPHA:142
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Reduced circulating complement concentration OMIM:613791
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:620532
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency 102
Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r... OMIM:301082
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Recurrent aspiration pneumonia, Syndactyly, Short tibia OMIM:300484
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:618523
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Crohn's disease,... OMIM:266600
Femoral-Facial Syndrome
Abnormal fibula morphology, Inguinal hernia, Abnormal pelvic girdle bone morphology, Coxa vara, A... ORPHA:1988
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Me... ORPHA:440354
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Folliculit... OMIM:300635
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Weight loss ORPHA:2902
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Wolfram-Like Syndrome
Optic atrophy, Male hypogonadism, Progressive cerebellar ataxia, Glucose intolerance, Depression,... ORPHA:411590
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Abdominal... OMIM:619802
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... ORPHA:1509
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased circulating hemoglobin concentration, Elevated circ... OMIM:617907
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Protein-losing enteropathy, Decreased circula... OMIM:613502
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... ORPHA:226313
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short tibia, Short ribs, Poor suck, Failure to ... OMIM:607143
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Pancytopenia, Sterile abscess, Arthritis, Elbow flexion contracture, Sterile arthritis, Cys... OMIM:604416
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased circulating hemoglobin concentration, Elevated circ... OMIM:611783
Congenital Atransferrinemia
Hypothyroidism, Anemia ORPHA:1195
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c... OMIM:308240
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Clinodactyly of the 5th finger, Knee flexion contracture, Inguinal hernia, Abdominal pain, 2-3 to... OMIM:616809
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, C... OMIM:614878
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG4 level, Obesity, Recurrent sinusitis, Decreased... OMIM:300310
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Increased circulating IgE level, Brachydactyly, Hip dysplasia, Short dist... ORPHA:1858
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket... ORPHA:411593
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Distal Arthrogryposis Type 1
Rocker bottom foot, Talipes, Abnormal hip bone morphology, Camptodactyly of finger, Ulnar deviati... ORPHA:1146
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Cowden Syndrome 7
Ductal carcinoma in situ, Goiter, Papillary thyroid carcinoma, Hashimoto thyroiditis OMIM:616858
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Skin rash, N... OMIM:618048
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Autoinflammation With Infantile Enterocolitis
Anemia, Episodic vomiting, Pancytopenia, Skin rash, Feeding difficulties in infancy, Failure to t... OMIM:616050
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level... OMIM:243700
Atelosteogenesis Type Ii
Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-sha... ORPHA:56304
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Panhypogammaglobulinemia, Colitis, Chronic mucocutaneous candidiasi... OMIM:209920
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Failure to thrive, Decreased ... OMIM:615758
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Talipes equinovarus, Short metacarpal, Hypoplasia of the femoral ... OMIM:226900
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Neutropenia in presence of... ORPHA:525731
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Failure to thrive, Increased ci... OMIM:615816
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen... OMIM:619220
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para... OMIM:171400
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Pelviscapular Dysplasia
Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,... ORPHA:93333
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Wide distal femoral metaphysis, Arthralgia of the hip, Hip osteoarthritis, Coxa ... ORPHA:99642
Immunodeficiency 92
Abnormal B cell proliferation, Decreased proportion of class-switched memory B cells, Lymphocytos... OMIM:619652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Failure to thrive, Decreased circulating IgG ... OMIM:256500
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd... OMIM:258860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys... OMIM:613101
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615108
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, High palate, Micrognathi... OMIM:201170
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl... OMIM:209950
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ... OMIM:618282
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired... OMIM:308230
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... OMIM:618261
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Epiphyseal dysplasia, Short phalanx of finge... ORPHA:79106
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Absent isohemaggl... OMIM:615559
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... OMIM:243150
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:218700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... ORPHA:169160
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating IgG level, Failure to thrive, Splenomegaly, De... OMIM:618495
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Bradycardia, Hearing impairment, Increased heart rate variability, Syncope OMIM:614896
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Metaphysea... ORPHA:750
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:603909
Ankylosing Vertebral Hyperostosis With Tylosis
Palmoplantar keratoderma, Obesity, Osteoarthritis, Abnormal pelvis bone morphology ORPHA:2206
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Amelia, Omphalocele, Foot oligodactyly, Short femur OMIM:601357
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615109
Activated Pi3K-Delta Syndrome
Recurrent otitis media, B lymphocytopenia, Arthritis, Decreased circulating antibody level, Abnor... ORPHA:397596
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Gastroesophageal reflux, Apl... ORPHA:356961
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Weight... ORPHA:26790
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Increa... ORPHA:3409
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus, Glucose intole... OMIM:610947
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Chronic diarrhea, ... OMIM:614699
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag... OMIM:301078
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Short ribs, Decreased fibular diameter, Micrognathia, Cleft palate, Limb under... OMIM:616897
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Bifid uvula, Short 5th f... OMIM:268305
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Vomiting, Failure to thrive, Pustule, Recurrent pneumonia, Secre... OMIM:616069
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Achondroplasia
Narrow greater sciatic notch, Recurrent otitis media, Rhizomelia, Ulnar bowing, Flared metaphysis... OMIM:100800
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Colitis OMIM:616744
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... ORPHA:1860
Spermatogenic Failure 17
Male infertility OMIM:617214
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Increased circulatin... ORPHA:276
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Bloody diarrhea, Duodenitis, Failure to thrive, Blepharitis, Pus... OMIM:614328
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyt... ORPHA:35078
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Acne, Anemia, Arthritis, Skin rash, Palmoplantar pustulosis, Infl... ORPHA:324964
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Ovarian carc... OMIM:158350
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Increased circulating IgE level, Increased circulating IgA level, Le... OMIM:620565
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of the long... ORPHA:2632
Orofaciodigital Syndrome Ix
High palate, Camptodactyly, Hand polydactyly, Cleft palate, Recurrent aspiration pneumonia, Toe s... OMIM:258865
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Absent sperm axoneme central pair... OMIM:301101
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral sensorineur... OMIM:611102
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Mccune-Albright Syndrome
Increased serum testosterone level, Abnormal testis morphology, Precocious puberty, Ovarian cyst,... ORPHA:562
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased circulating hemoglobin concentration,... OMIM:263400
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Cleft hard palate, Small epiphyses, Delayed epiphyse... ORPHA:166016
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Atelosteogenesis Type I
Abnormal fibula morphology, Rhizomelia, Short long bone, Micrognathia, Cleft palate, Limb undergr... ORPHA:1190
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Atrophic scars, Decre... OMIM:618131
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Tongue nodules, Clinodactyly, Fibular aplasia, Postaxi... OMIM:277170
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Diarrhea, Crohn's disease, Arthritis, Decreased circulating antibody... OMIM:616100
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology... ORPHA:429
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Gastroparesis, Intestinal pseud... OMIM:619350
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Furrowed tongue, Micromelia, Camptodactyly of finger, Bra... ORPHA:2928
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Dementia, Bradycardia, Depression, Progressive hearing impairmen... OMIM:609286
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko... ORPHA:507
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased ci... OMIM:601495
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Chronic diarrhea, Decreased circulating antibody level, Failure... OMIM:616740
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Abnormal foot morphology, Small epiphyses, Upper limb undergrowth, Short long bone, ... ORPHA:94068
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short long bo... OMIM:616300
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Impaired sensiti... OMIM:614450
Classic Galactosemia
Premature ovarian insufficiency, Reduced bone mineral density, Male infertility, Gait imbalance, ... ORPHA:79239
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, High palate, Forearm undergrowth, Obes... ORPHA:314795
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Enamel hypoplasia, Brachydactyly, Abnormal epiphysis morphology,... ORPHA:2643
Late-Infantile/Juvenile Krabbe Disease
Irritability, Delayed brainstem auditory evoked response conduction time, Difficulty walking, Dec... ORPHA:206443
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Increased circulating IgA level, A... OMIM:612783
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Esophageal stenosi... OMIM:615190
Epidermolysis Bullosa Acquisita
Atypical scarring of skin, Inflammation of the large intestine, Abdominal pain ORPHA:46487
Aspergillosis
Eosinophilia, Increased circulating IgE level, Neutropenia ORPHA:1163
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Cardiomyopathy, Unsteady gait, Hyperglycemia, Type II diabetes ... OMIM:520000
Lead Poisoning
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthe... ORPHA:330015
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia, Optic disc pallor OMIM:618970
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Short metacarpal, Abnorma... ORPHA:968
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ... ORPHA:93307
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impairment, Testicular at... ORPHA:276183
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho... ORPHA:2639
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on int... ORPHA:37042
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing ribs, Micrognathi... OMIM:251230
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Failure to thrive, Severe B lymphocytopenia,... OMIM:603554
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr... OMIM:617099
Familial Multinodular Goiter
Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter, Sertoli cell neoplasm ORPHA:276399
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Clubbing, Corneal scarring, Recurrent pneumonia, Bronchiectasis, Failure to thr... OMIM:301220
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Bowel irritability, ... OMIM:619381
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Failure to thrive, Chronic hepatiti... OMIM:614602
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Dysphagia, Allergic rhinitis, Abdominal pain, Lactose intolerance, Atopic dermatitis, Eosinophili... ORPHA:411696
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Rhizomelia, Inguinal hernia, Tibial bowing, Bowing of the long bones... OMIM:613848
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Esophagitis, Eosinophilic, 2
Esophagitis, Vomiting, Failure to thrive, Dysphagia, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Vomiting, Failure to thrive, Dysphagia, Eosinophilia OMIM:610247
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Metaphyseal striations OMIM:615139
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, T lymphocytopenia, Sinusitis, Failure to thrive, Increased circulating IgM level, Micro... OMIM:242860
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Truncal ataxia, Long eyebrows, Impaired glucose tolerance, Prominent antihelix, Macr... OMIM:614407
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Elevated circulating thyroid-stimulating hormone concentration, Enlarged pituita... ORPHA:91347
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
High palate, Finger joint contracture, Symphalangism of the thumb, Failure to thrive, Increased f... OMIM:620494
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Hypotension, Abnormal autonomic nervous system physiology, C... ORPHA:369873
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A... ORPHA:2370