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Gene: Tg MGI:98733

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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
increased bone mineral content Tgem1(IMPC)J HOM Early adult 5.04×10-15
male infertility Tgem1(IMPC)J HOM Early adult 0.00
increased grip strength Tgem1(IMPC)J HOM Early adult 1.84×10-09
abnormal locomotor behavior Tgem1(IMPC)J HOM Early adult 5.61×10-06
improved glucose tolerance Tgem1(IMPC)J HOM   Early adult 1.07×10-05
decreased exploration in new environment Tgem1(IMPC)J HOM Early adult 1.08×10-06
decreased locomotor activity Tgem1(IMPC)J HOM Early adult 9.71×10-06
abnormal auditory brainstem response Tgem1(IMPC)J HOM   Early adult 6.53×10-05
increased fasting circulating glucose level Tgem1(IMPC)J HOM Early adult 1.90×10-21
decreased vertical activity Tgem1(IMPC)J HOM   Early adult 6.48×10-08
abnormal coat/ hair morphology Tgem1(IMPC)J HOM Early adult 1.57×10-05
prolonged RR interval Tgem1(IMPC)J HOM Early adult 6.18×10-05

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lacZ Expression

Expression data not available

Associated Images

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

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Auditory Brain Stem Response

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

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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
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... 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
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... 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 T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... 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
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... OMIM:615767
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Increased circulating... OMIM:617241
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Blepharochalasis And Double Lip
Goiter OMIM:109900
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Failure to thrive, Lack of T cell function, Increased circulatin... ORPHA:277
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter OMIM:180295
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... ORPHA:169154
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus... OMIM:274300
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m... OMIM:613501
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, Decreased ci... ORPHA:98813
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Immunodeficiency 70
Decreased circulating total IgG, Plantar warts, Decreased proportion of CD4-positive helper T cel... OMIM:618969
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Primary gonadal insufficiency, Small f... OMIM:210740
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... OMIM:617514
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Inflammation of the large intestine, Diarrhea, Failure to thri... OMIM:618108
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... OMIM:275000
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency, partial combined, with absence of hla determinantsand 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 proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... OMIM:269840
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Thyroid Lymphoma
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter ORPHA:97285
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Pendred Syndrome
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter ORPHA:705
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c... ORPHA:1972
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... OMIM:602450
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi... OMIM:606367
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C... OMIM:607271
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Beukes Hip Dysplasia
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... OMIM:142669
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Impaired lymph... OMIM:617006
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia ORPHA:100024
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... OMIM:609324
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Smal... ORPHA:294975
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Failure to thrive, Increased circulating IgE level, Decreased FOXP3-exp... OMIM:304790
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
Maffucci Syndrome
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... ORPHA:163634
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Spl... ORPHA:1802
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Masp2 Deficiency
Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Nod... ORPHA:1332
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Cleft palate, Syndactyly OMIM:300484
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Wolfram-Like Syndrome
Optic atrophy, Male hypogonadism, Depression, Congenital sensorineural hearing impairment, Glucos... ORPHA:411590
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level,... OMIM:102700
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Decreased circulating IgG level, Recurrent otiti... OMIM:613502
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Rhizomelia, Recurrent pneumonia, Short tibia, Failure to thrive,... OMIM:607143
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ... OMIM:604416
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulating thyroid-s... ORPHA:226313
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
Congenital Atransferrinemia
Anemia, Hypothyroidism ORPHA:1195
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:611783
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Toe syndactyly, Vomiting, Elbow flexion contracture, High palate, Knee flexion contracture, Hip c... OMIM:616809
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased p... OMIM:614878
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Increased circulating IgE level, Hypoplastic iliac wing, Brachyda... ORPHA:1858
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... ORPHA:411593
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... ORPHA:1146
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter OMIM:616858
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Clinodactyly, Abnormal circulating IgM... OMIM:618048
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Reduced natural killer ... OMIM:616050
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Bilateral cleft... ORPHA:56304
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Increased circulating Ig... OMIM:243700
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Mhc Class Ii Deficiency 1
Cutaneous anergy, Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panh... OMIM:209920
Immunodeficiency 22
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr... OMIM:615758
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Hypoplasia of the femoral head, Talipes equinovarus, Flat capital femoral e... OMIM:226900
Immunodeficiency 23
Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropen... OMIM:615816
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Pediatric-Onset Graves Disease
Graves disease, Failure to thrive, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased... ORPHA:525731
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Hip osteoarthritis, Broad femoral neck, Arthralgia of the hip, Wide dista... ORPHA:99642
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t... OMIM:256500
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micrognathia, Posta... OMIM:258860
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Abnormal natural killer ... OMIM:613101
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Anemia, Increased ci... OMIM:209950
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Failure to thrive, Abnormal c... OMIM:308230
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... OMIM:618261
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T... OMIM:618213
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu... ORPHA:169160
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618986
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Increased ... OMIM:618495
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Sinoatrial Node Dysfunction And Deafness
Hearing impairment, Abnormal QRS complex, Syncope, Bradycardia, Increased heart rate variability OMIM:614896
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Micrognathia, Fibular ... OMIM:227270
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Obesity, Palmoplantar keratoderma, Osteoarthritis ORPHA:2206
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:603909
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Bilateral cleft palate, Omphalocele, Short femur OMIM:601357
Cowden Syndrome 6
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615109
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
Activated Pi3K-Delta Syndrome
Pneumonia, Failure to thrive, Recurrent otitis media, Decreased circulating antibody level, Splen... ORPHA:397596
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Gastroesophageal reflux, Short tibia, Camp... ORPHA:356961
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Hernia, Weight ... ORPHA:26790
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to t... ORPHA:911
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Autoimmune thrombocytopen... ORPHA:436159
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Hypertension, Osteoporosis, Sudden cardiac death,... OMIM:610947
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago... OMIM:301078
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Limb undergrowth, Adduct... OMIM:616897
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, High palate, Mesomelic arm shorteni... OMIM:268305
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l... OMIM:616069
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... OMIM:211350
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Recurrent otitis media, Feeding difficulties, Femor... OMIM:100800
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Spermatogenic Failure 17
Male infertility OMIM:617214
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint... ORPHA:1860
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility, Sensorineural hearing impairment OMIM:608653
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Bloody diarrhea, Increased circulating IgE level, Villous atrophy... OMIM:614328
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:35078
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Acne, Inflammation of the large intestine, Abnormal epiphysis morphology, Osteomyelitis, Psoriasi... ORPHA:324964
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Finger synda... ORPHA:1106
Cowden Syndrome 1
Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroidism, Hydroc... OMIM:158350
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:609529
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenom... OMIM:620565
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Hig... OMIM:258865
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Recurrent otitis media, Microcephalic sperm head, Redu... OMIM:301101
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral senso... OMIM:611102
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... ORPHA:562
Atelosteogenesis Type I
Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossification involving ... ORPHA:1190
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Preaxial hand polydacty... OMIM:277170
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Cutaneous abscess, Ecz... OMIM:618131
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ... ORPHA:429
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Failure to thrive, Increased hematocrit, Incre... OMIM:263400
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Progressive hearing impairment, Hypogonadism, Arrhythmia, Gait distur... OMIM:609286
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otitis media, Decreas... OMIM:601495
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Immunodeficiency 46
Failure to thrive, Conjunctivitis, Decreased circulating antibody level, Neutropenia, Anemia, Int... OMIM:616740
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under... ORPHA:94068
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Hypoplasti... 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
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Impaired T... OMIM:240500
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Classic Galactosemia
Mental deterioration, Depression, Hypoglycemia, Gait imbalance, Primary amenorrhea, Attention def... ORPHA:79239
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Gastroesophageal reflux, Short iliac bones, Abn... ORPHA:93316
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Shox-Related Short Stature
Obesity, Micrognathia, Genu valgum, Tibial bowing, Ulnar radial head dislocation, Lower limb unde... ORPHA:314795
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Small for gestational age, Diab... OMIM:618858
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Difficulty walk... ORPHA:206443
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Abnormal epiphysis morphology, Enamel hypoplasia, Brachydactyly,... ORPHA:2643
Immunodeficiency 10
Decreased circulating IgG level, Hypoglycemia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:612783
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... OMIM:614450
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine, Atypical scarring of skin ORPHA:46487
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Mohr-Tranebjaerg Syndrome
Mental deterioration, Shuffling gait, Prelingual sensorineural hearing impairment, Optic atrophy,... ORPHA:52368
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment, Unste... OMIM:520000
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Hamartoma of tongue, Acetabular s... OMIM:613091
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Ab... ORPHA:95427
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Ataxia OMIM:618970
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, S... ORPHA:968
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... ORPHA:93307
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Spinocerebellar Ataxia Type 32
Azoospermia, Cognitive impairment, Testicular atrophy, Male infertility, Progressive cerebellar a... ORPHA:276183
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... OMIM:603554
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm ORPHA:276399
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... OMIM:301220
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m... OMIM:619381
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... ORPHA:411696
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chroni... OMIM:614602
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Osteogenesis Imperfecta, Type X
Pyloric stenosis, Rhizomelia, Recurrent pneumonia, Dentinogenesis imperfecta, Micromelia, Genu va... OMIM:613848
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
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
Esophagitis, Eosinophilic, 2
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:610247
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Metaphyseal striations, Bronchiectasis OMIM:615139
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... OMIM:242860
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Prominent antihelix, Long eyebrows, Glucose intolerance, Impaired glucose... OMIM:614407
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Small for ge... OMIM:606176
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Failure to thrive, Clinodactyly, Broad hallux, Feeding dif... OMIM:620494
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... ORPHA:2370
Obesity Due To Sim1 Deficiency
Hypotension, Memory impairment, Postural hypotension with compensatory tachycardia, Hyperinsuline... ORPHA:369873
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Bone marrow hypocellularity, Micrognathia, Failure to thrive OMIM:301108
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormality of connective tissue, Abnormal rectum mo... ORPHA:70475
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Deafness-Infertility Syndrome
Azoospermia, Male infertility, Sensorineural hearing impairment ORPHA:94064
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones... OMIM:602080
Immunodeficiency 17
Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Chro... OMIM:615607
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Irritability, Premature ventri... OMIM:212138
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level, Eosinophilia ORPHA:2314
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat... OMIM:600802
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... ORPHA:275
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Hyperparathyroidism, Transient Neonatal
Fractured rib, Gastroesophageal reflux, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Sple... OMIM:618188
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Recurre... OMIM:617744
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, D... OMIM:612782
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Cyclic Neutropenia
Cellulitis, Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth... ORPHA:2686
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Decreased liver function, In... ORPHA:540
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Recurrent otitis media,... ORPHA:2502
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytope... ORPHA:572
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath... OMIM:256050
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Mem... OMIM:618999
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Broad-based gai... ORPHA:206448
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Malabsorption, Decreased circulating IgA level OMIM:137100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Type I diabetes mellitus, Polycystic ovaries ORPHA:371428
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstruction, Constrictive ... ORPHA:67
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Nod... OMIM:162300
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn... ORPHA:239
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Atrophic scars, Increased circulating ... ORPHA:48104
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality... ORPHA:33355
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Occipital Horn Syndrome
Humerus varus, Genu valgum, Esophagitis, Pes planus, Abnormal fibula morphology, Short palm, Dysp... ORPHA:198
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449432
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Limb undergrowth, Diaphyseal und... ORPHA:1803
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Anal fi... OMIM:618935
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Shigellosis
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Intestinal perforation, Blo... ORPHA:810
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl... OMIM:119800
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Athetosis OMIM:618857
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Celiac disease, Eczematoid dermatitis, Thyroiditis OMIM:618985
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Chronic rhinitis,... ORPHA:3312
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG level, Intestinal lym... ORPHA:90362
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hearing impairment, Hyperglycemia, Transient neonatal diabe... ORPHA:99886
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation ORPHA:1508
Orofaciodigital Syndrome Type 2
Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad first metatarsa... ORPHA:2751
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Hamartoma of tongue, Micrognathia, Fibular hypoplasia, Short r... OMIM:617925
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Short distal phalanx of the thumb, Diarrhea, Clinodactyly of the ... ORPHA:221139
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of ... ORPHA:3035
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level ORPHA:90280
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Increased circulating IgG level... ORPHA:2137
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Tularemia
Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto... ORPHA:3392
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials... ORPHA:99027
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Diabetes mellitus, Hyperthyroidism, Goiter ORPHA:254892
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Genu valgum, Gastrointestinal dysmotility, Duodenal atresia, Short femur OMIM:617798
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Skin rash, Increased circulating a... OMIM:617591
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur OMIM:620306
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... ORPHA:733
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, Umbilical ... OMIM:156550
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Arthrogryposis multiplex con... OMIM:157900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th... OMIM:210710
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Xq28 (MECP2) duplication
Gastroesophageal reflux, Failure to thrive, Decreased circulating IgA level, Feeding difficulties... DECIPHER:45
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Bifid uvula, Short toe, Umbilical hernia, Ulnar deviation of the... OMIM:616145
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased ... OMIM:615234
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Microglossia, Camptodactyly of finger, Micrognathia, Me... ORPHA:2839
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty... OMIM:263520
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Failure to thrive, Increased circulating IgE level, Psoriasiform dermat... OMIM:615508
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Recurrent hypoglycemia, Abnormal lymphocyte morphology, Decreased circulating ... ORPHA:293978
Leukodystrophy, Hypomyelinating, 5
Loss of ambulation, Delayed somatosensory central conduction time, Decreased motor nerve conducti... OMIM:610532
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... OMIM:208900
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Talipes equinovarus, Radioulnar synostosis... OMIM:134780
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circul... OMIM:617388
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Pancytopenia, Decreased c... OMIM:275350
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Atypical scarring of skin, Palmoplantar keratoder... ORPHA:2908
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, ... ORPHA:1427
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Umbilical hernia, Micrognathia, Short hu... OMIM:258315
Tibial Hemimelia
Absent tibia OMIM:275220
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ... OMIM:250250
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... OMIM:618849
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia OMIM:617182
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... OMIM:617718
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... OMIM:164900
Leukodystrophy, Hypomyelinating, 13
Ataxia, Optic atrophy, Delayed brainstem auditory evoked response conduction time, Irritability OMIM:616881
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Selective Igm Deficiency
Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p... ORPHA:331235
Amed Syndrome, Digenic
Failure to thrive, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia OMIM:619151
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... ORPHA:209905
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Failure to thrive, Neutropenia OMIM:616395
Sepsis In Premature Infants
Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Increased circulating interle... ORPHA:90051
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Aganglionic megacolon, White eyebrow, Wh... OMIM:600501
Pneumocystosis
Abnormal neutrophil count, Weight loss, Increased circulating antibody level ORPHA:723
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic disc pallor,... OMIM:619260
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Umbilical hernia, Large for ges... OMIM:616638
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Increased circulating interleukin 6 concentration, Failure to thrive... OMIM:620376
Cowden Syndrome
Follicular thyroid carcinoma, Goiter, Neoplasm of the thyroid gland, Abnormality of the thyroid g... ORPHA:201
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anem... OMIM:615934
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia, Sensorineural h... ORPHA:101085
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calcification pro... OMIM:222765
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long eyelashes, Low posterior hairline, Optic disc pallor, A... OMIM:617523
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Hepatosplenome... ORPHA:3260
Igg4-Related Kidney Disease
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449395
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog... ORPHA:3429
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Aplasia/Hypoplasia of the tongue, Mi... ORPHA:958
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Gastroesophageal reflux, Vomiting, Failure to thrive, Short humerus, Polydactyly, Flexion contrac... ORPHA:17
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contracture of the hand, ... OMIM:228520
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hypoglycemia, Bradycardia OMIM:619048
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci... ORPHA:3243
Idiopathic Congenital Hypothyroidism
Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:95717
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Rhizomelic arm shortening, Lymphopenia, Leuko... ORPHA:508542
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Small hand, Severe B lymphocytopenia, Exocrine... OMIM:620005
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia, Irritability OMIM:618235
8Q24.3 Microdeletion Syndrome
Talipes, Feeding difficulties in infancy, Pes planus, Short hallux, Dysphagia, Short 5th finger, ... ORPHA:508488
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating parathyroid horm... ORPHA:653
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Rhizomelia, Eczematoid dermatitis, Elbow contracture, Irregular epiphyses, Fee... OMIM:618162
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Leukocytosis, Lymphocytosis... ORPHA:514
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Hi... OMIM:166600
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Alg12-Cdg
Overlapping fingers, Micrognathia, Abnormal circulating IgG level, Talipes equinovarus, Partial a... ORPHA:79324
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Slender long bone, Clinodactyly, Hepatitis, Failure to thrive in infancy... OMIM:613385
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... ORPHA:90038
Zygomycosis
Cellulitis, Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, ... ORPHA:73263
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Anemia, Bone-marrow foam cells ORPHA:75233
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Abnormality of subcutaneous fat tissue, Avascular necrosis of the capita... ORPHA:1901
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb undergrowth, Small ... OMIM:166210
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Attention deficit hyperactivity disorder, Oligozoospermia, Male inferti... ORPHA:3000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Hepatosplenomegaly, Adrenal insufficiency, Reticulocytopenia, Dysplastic erythropoe... ORPHA:300298
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho... OMIM:210720
Bloom Syndrome
Neoplasm of the colon, Micrognathia, Stomach cancer, Abscess, Abnormal proportion of CD8-positive... ORPHA:125
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Small for gestational age, Abnormal T cell morphology OMIM:215250
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level ORPHA:319218
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Decreased nerve conduction velocity, Loss of ambulation, Hypsarrhythmia, EEG abnorm... ORPHA:565624
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Broad distal phalanx of finger, Micrognathia, Submucous cleft hard palate, Talipes, ... OMIM:300990
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Hyperglycemia, Decreased libido, Portal hypertension, H... ORPHA:465508
Hydatidiform Mole
Anemia, Hyperthyroidism ORPHA:99927
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, EEG abnormality, Bradycardia OMIM:618815
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Panhypogammaglobulinemia, Lymphopenia, Villous atrophy, Sp... ORPHA:84064
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism ORPHA:2668
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Epilepsy-Telangiectasia Syndrome
Short 5th finger, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Malabsorption, Inguinal hernia, Agammaglobulinemia, Aganglionic megacolon, Long fibu... ORPHA:935
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ... ORPHA:79078
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadi... ORPHA:848
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Optic atrophy, ... ORPHA:206436
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy... OMIM:262190
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chro... ORPHA:391487
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Inflammatory Pseudotumor Of The Liver
Weight loss, Diabetes mellitus, Increased hepatitis B virus antibody level ORPHA:90003
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Prolidase Deficiency
Failure to thrive, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia OMIM:170100
Omodysplasia 2
Gastroesophageal reflux, Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Rec... OMIM:164745
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Wiedemann-Rautenstrauch Syndrome
Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Talipes equinovarus, Large hands... OMIM:264090
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion... OMIM:619708
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Depression, Abnormal auditory evoked potentials, Abnormal motor evoked... ORPHA:909
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia OMIM:307200
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Aminoacylase 1 Deficiency
Bradycardia, Sensorineural hearing impairment OMIM:609924
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Weight loss, Iron deficiency anemia, Kerato... ORPHA:309031
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ... ORPHA:90065
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Camurati-Engelmann Disease
Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pes planus, Feeding difficulties... ORPHA:1328
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Hearing impairment, Bradycardia OMIM:616277
Aredyld Syndrome
Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphology, Splenomegaly, Cachexia... ORPHA:1133
Phocomelia, Schinzel Type
Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ... ORPHA:2879
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Bifid uvula, Broad thumb, Gastroesophageal reflux, Keloids, Finger cl... OMIM:617137
Celiac Disease, Susceptibility To, 1
Diarrhea, Abdominal distention, Failure to thrive, Celiac disease, Eczematoid dermatitis, Vomitin... OMIM:212750
Seckel Syndrome 1
Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape... OMIM:210600
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Hyperlipoproteinemia, Type Id
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Colitis OMIM:615947
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Esophagitis, Amelia, Perineal fistula, Abnormal metacarpal morphology,... ORPHA:2538
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Hypoglycemia, Bradycardia OMIM:614702
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Cockayne Syndrome A
Irregular menstruation, Optic atrophy, Dry hair, Abnormal auditory evoked potentials, Hypogonadis... OMIM:216400
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Neutrope... ORPHA:175
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczematoid d... OMIM:615895
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Cryptorchidism, Thyroid agenesis, Hypothyroidism, Thyroid dysgenesis, Thyroid hypoplasia, Ectopic... ORPHA:3047
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Gastroesophageal reflux, Oral leukoplakia, Failure to thrive, De... OMIM:620040
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic... OMIM:260660
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Dysphagia, Feeding difficulties, Tapered finger OMIM:618367
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia, Small f... ORPHA:391673
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick sinus syndrome, Prolonge... ORPHA:542306
Mevalonic Aciduria
Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le... OMIM:610377
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Atrophic scars OMIM:182410
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Anterior radial head dislocati... OMIM:610967
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Hearing impairment, Difficulty walking, Abnormality of peripher... ORPHA:90321
Multiple Osteochondromas
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstruction, Bowing ... ORPHA:321
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level OMIM:618838
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs... OMIM:261740
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormality of the spleen, Anore... ORPHA:1834
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,... ORPHA:90363
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Autonomic bladder dysfunction, Hypertrophic card... ORPHA:330001
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Meier-Gorlin Syndrome 1
Small hand, Joint contracture of the hand, Cutaneous finger syndactyly, Genu valgum, Micrognathia... OMIM:224690
Wiedemann-Rautenstrauch Syndrome
Recurrent otitis media, Slender build, Reduced subcutaneous adipose tissue, Synovitis, Recurrent ... ORPHA:3455
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Acrorenal-Mandibular Syndrome
Narrow palate, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contractur... OMIM:200980
Cleidocranial Dysplasia
High, narrow palate, Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiph... ORPHA:1452
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Bronchiectasis, Pancytopenia, Abnormality of T cell physiolo... OMIM:181000
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Necrotizing enterocolitis, Lymphopenia, ... OMIM:619573
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Eosinophilia, We... ORPHA:400
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Intestinal perforation, Abnormal circulating chemokine concentration, G... ORPHA:544482
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal... ORPHA:1827
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Broad hallux, Failure to thrive, Umbilical hernia, Decreased cir... OMIM:617062
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Whi... OMIM:609136
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Sparse eyelashes, Hyp... OMIM:610768
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cockayne Syndrome B
Optic atrophy, Dry hair, Abnormal auditory evoked potentials, Abnormal hair morphology, Decreased... OMIM:133540
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Hyperinsulinemia, Hirsutism, Prolonged QT interval, Osteoporosis,... OMIM:613327
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Nijmegen Breakage Syndrome
Anal stenosis, Diarrhea, Recurrent pneumonia, Sandal gap, Recurrent otitis media, Micrognathia, R... OMIM:251260
Bloom Syndrome
Decreased circulating IgG level, Bronchiectasis, Elevated hemoglobin A1c, Malar rash, Decreased c... OMIM:210900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Eczematoid dermatitis, Contracture of the distal interphalangeal joint of the ... ORPHA:83617
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, In... OMIM:260920
Corticosteroid-Binding Globulin Deficiency
Anemia, Decreased circulating cortisol level OMIM:611489
Harrod Syndrome
Abnormal pelvic girdle bone morphology, Failure to thrive, Abnormal shoulder morphology, Arachnod... ORPHA:2115
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of... OMIM:208500
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Failure to thrive, Chronic ... OMIM:300972
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, Small for gestational age ORPHA:289266
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Hypoglycemia, Splenomegaly, Polysplenia ORPHA:373
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Failure to thrive, Ulcerative colit... ORPHA:79259
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Short thumb, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Granuloma, Interface hepatitis, Sclerosing cholangitis, Gran... ORPHA:562639
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... ORPHA:1422
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level, Lactose intolerance, Pes planus, Prot... ORPHA:457485
Primary Sclerosing Cholangitis
Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Hepatosplenomegaly, Splenomegaly, Chro... ORPHA:171
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Hyperglycemia, Depression, Hypertension OMIM:615954
Hydrolethalus Syndrome 1
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino... OMIM:236680
Hermansky-Pudlak Syndrome 1
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia OMIM:203300
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
EEG with burst suppression, Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Aromatase Deficiency
Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Female infertility, Type II diab... ORPHA:91
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Phace Association
Congenital hypothyroidism, Lingual thyroid OMIM:606519
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Sheehan Syndrome
Sparse pubic hair, Hypoglycemia, Breast hypoplasia, Palpitations, Decreased female libido, Sensor... ORPHA:91355
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, High, narrow palate, Bifid uvula, Finger syndactyly, Failure to ... ORPHA:2753
Gaucher Disease Type 1
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, In... ORPHA:77259
Viss Syndrome
Increased circulating IgE level, Micrognathia, Genu valgum, Cleft soft palate, Chronic constipati... OMIM:619472
Poems Syndrome
Polycythemia, Splenomegaly, Increased circulating antibody level, Weight loss, Thrombocytosis, Di... ORPHA:2905
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Mogs-Cdg
Decreased circulating IgG level, Nasogastric tube feeding, Overlapping fingers, Hepatosplenomegal... ORPHA:79330
D-Glyceric Aciduria
Hypoglycemia, Sensorineural hearing impairment, Hypsarrhythmia, Bradycardia, Optic nerve hypoplasia OMIM:220120
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Hemiatrophy, Stippled calc... OMIM:302960
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Inc... OMIM:617303
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Vomiting, Pes cavus, Hiatus hern... OMIM:601162
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Osteoporosis, Synophrys, Waddling gait OMIM:620351
Fumarase Deficiency
Hepatic failure, Polycythemia, Failure to thrive, Reduced subcutaneous adipose tissue, High palat... OMIM:606812
Trichinellosis
Increased circulating IgE level ORPHA:863
Congenital Disorder Of Glycosylation, Type Iib
Hand clenching, Overlapping fingers, Decreased circulating IgA level, Feeding difficulties in inf... OMIM:606056
Myeloma, Multiple
Paraproteinemia OMIM:254500
Multiple Myeloma
Splenomegaly, Weight loss, Increased circulating IgA level, Anemia, Increased circulating IgG lev... ORPHA:29073
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Micrognathia, Genu valgum, Gastroint... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Micrognathia, Genu valgum, Gastroint... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Micrognathia, Genu valgum, Gastroint... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Micrognathia, Genu valgum, Gastroint... ORPHA:881
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology... ORPHA:284
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology OMIM:607634
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Bradycardia, Tachyca... ORPHA:3299
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA... OMIM:212065
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Anal stenosis, Gastroesophageal reflux, Joint contracture of the hand, Failure to th... OMIM:300373
Glossopharyngeal Neuralgia
Depression, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Syncope, Brady... ORPHA:221098
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Dubowitz Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insuffi... OMIM:223370
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Missing ribs, Talipes e... ORPHA:3027
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ... ORPHA:420741
Papa Syndrome
Type I diabetes mellitus, Increased circulating antibody level ORPHA:69126
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Low-set ears, Hypotension, Dementia, Confusion, Lethargy, Pulmonary arterial hypertension, Bradyc... OMIM:277400
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Bradycardia OMIM:617397
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Priapism, Congestive heart failure, Bundle branc... ORPHA:466677
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Brucellosis
Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Weight loss,... ORPHA:1304
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process,... OMIM:272460
Caffey Disease
Increased circulating antibody level ORPHA:1310
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Autoimmune Thyroid Disease, Susceptibility To, 3
Thyroiditis OMIM:608175
Encephalitis Lethargica
Mental deterioration, Lethargy, Bradycardia ORPHA:83600
Kinsship Syndrome
Gastroesophageal reflux, Failure to thrive, Ankyloglossia, Micrognathia, Chronic constipation, Fi... OMIM:619297
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... ORPHA:707
Glutamine Deficiency, Congenital
Low-set ears, Bradycardia OMIM:610015
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Q Fever
Granuloma, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Weight loss, T... ORPHA:781
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination, Failure to thrive ORPHA:442835
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Bradycardia, Bilateral sensorineural hearing imp... ORPHA:40366
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Al Amyloidosis
Anemia, Howell-Jolly bodies, Weight loss, Increased circulating antibody level ORPHA:85443
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Gastroesophageal reflux, Slender long bone, Upper limb undergrowth, Obesity,... ORPHA:369837
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Leukopenia, Reduced circulating complement concentration, Decreas... ORPHA:289390
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Bladder Exstrophy And Epispadias Complex
Abnormal pelvic girdle bone morphology, Inguinal hernia, Anteriorly placed anus OMIM:600057
Charge Syndrome
Lymphopenia, Micrognathia, Absent radius, Bilateral talipes equinovarus, Anal atresia, Dysphagia,... OMIM:214800
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Monosomy 18Q
Failure to thrive, Slender build, Decreased circulating IgA level, Arachnodactyly, Talipes equino... ORPHA:1600
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Failure to thrive ORPHA:280210
Cranioectodermal Dysplasia 1
High, narrow palate, Short distal phalanx of finger, Rhizomelia, Hepatic failure, Short toe, Clin... OMIM:218330
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Protuberant abdomen, Neutr... OMIM:232220
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Acute leukemia, Synostosi... ORPHA:289
Proximal Spinal Muscular Atrophy
Difficulty walking, Facial diplegia, Inability to walk, Bradycardia ORPHA:70
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Failure to thrive, Reduced circulating complem... ORPHA:470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Alopecia totalis, Persistent fetal circulation, Papilledema, Bradyca... OMIM:618775
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Neutrophilia ORPHA:79139
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:3206
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Bifid uvula, Micromelia, Abnormal... ORPHA:2636
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia, Thyroid hypoplasia, Cryptorch... ORPHA:2166
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Glycogen Storage Disease Ic
Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Hepatoblasto... OMIM:232240
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Finger syndactyly,... ORPHA:110
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoglycemia, Lymphopenia, Abnormal lymphocyte morphology,... ORPHA:99826
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia ORPHA:77261
Rift Valley Fever
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:319251
Partial Androgen Insensitivity Syndrome
Insulin insensitivity, Male sexual dysfunction, Azoospermia, Abnormality of secondary sexual hair... ORPHA:90797
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Failure to thrive, Increased circulating inter... OMIM:256040
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Increased circulating antibody level, Weight loss, Thrombocytopenia, ... OMIM:615846
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Reduced circulating complement concentration, Eosinophilia ORPHA:449427
Mowat-Wilson Syndrome
Recurrent otitis media, Genu valgum, Decreased body weight, Pes planus, Dysphagia, Bowel incontin... ORPHA:2152
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Abnormal autonomic nervous syst... ORPHA:94093
Complete Androgen Insensitivity Syndrome
Sparse pubic hair, Sparse axillary hair, Absent pubic hair, Primary amenorrhea, Absent axillary h... ORPHA:99429
Lujo Hemorrhagic Fever
Mental deterioration, Hypotension, Shock, Confusion, Bradycardia, Myocarditis, Subconjunctival he... ORPHA:319213
Treacher-Collins Syndrome
Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, T... ORPHA:861
Congenital Analbuminemia
Obesity, Small for gestational age, Increased circulating antibody level ORPHA:86816
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Obesity, Myeloproliferative disorder, Osteomyelitis ORPHA:70591
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Missing ribs, Aplasia/hypoplasia of the femur, Clinodactyly of th... ORPHA:2769
Crimean-Congo Hemorrhagic Fever
Emotional lability, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, He... ORPHA:99827
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Gastroesophageal reflux, Hypoplasia of proximal radius, Aspiration pneumonia, Obesity... ORPHA:444077
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Mend Syndrome
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials ORPHA:401973
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Increased circulating IgG level, Inc... ORPHA:228123
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Bohring-Opitz Syndrome
Optic atrophy, Hypertrichosis, Inability to walk, Low-set, posteriorly rotated ears, Bradycardia,... ORPHA:97297
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level,... ORPHA:355
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Illum Syndrome
Bradycardia OMIM:208155
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:619607
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 concentration, ... ORPHA:99829
Aapoaiv Amyloidosis
Paraproteinemia, Diabetes mellitus ORPHA:439232
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Splenic cyst, Cryptorchidism, Decreased body weight, Abnormal CNS myelination, Abnormal myelinati... OMIM:620371
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Lassa Fever
Increased circulating IgM level ORPHA:99824
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Primary Biliary Cholangitis
Increased circulating IgA level, Splenomegaly, Increased circulating IgM level ORPHA:186
Scleromyxedema
Paraproteinemia ORPHA:167635
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Failure to thrive, Decreased response to growth hormone stimulation test, ... OMIM:619503
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Dec... ORPHA:672
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Splenomegaly, Abnormal myelination, Delayed myelination, Small for gestational... ORPHA:404454
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Weight loss, Increas... ORPHA:91500
Degcags Syndrome
Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukopenia, Cryptorchidism, Abnormal spleen ... OMIM:619488
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Bradycardia, Sensorineural hearing impairment OMIM:617248
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Abnormal myelination, Polycythemia ORPHA:309854
Postinfectious Vasculitis
Abnormality of humoral immunity, Increased circulating antibody level, Weight loss, Increased cir... ORPHA:48435
Cystic Fibrosis
Osteopenia, Depression, Hearing impairment, Osteoporosis, Male infertility ORPHA:586
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropathy ORPHA:466768
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Dilated cardiomyopathy, Nail dystrophy, Bradycardia, Osteoporosis ORPHA:79404
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Cockayne Syndrome Type 3
Abnormal myelination, Splenomegaly, Demyelinating peripheral neuropathy ORPHA:90324
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary in... OMIM:614437
Orofaciodigital Syndrome Type 14
Abnormal myelination, Bilateral cryptorchidism ORPHA:434179

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tg

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tg.

There are 17 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Transforming growth factor receptor III (Betaglycan) regulates the generation of pathogenic Th17 cells in EAE. Frontiers in immunology (February 2023) Tgfbr3tm1a(EUCOMM)Hmgu PMC9968395
A trans-eQTL network regulates osteoclast multinucleation and bone mass. eLife (June 2020) Tgfb1i1tm1b(KOMP)Wtsi PMC7351491
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tgfb1i1tm1b(KOMP)Wtsi Tgm3em2(IMPC)Wtsi Tgm6tm1a(KOMP)Wtsi PMC7263671
Functional analysis of candidate genes from genome-wide association studies of hearing. Hearing research (January 2020) Tgm6tm1a(KOMP)Wtsi PMC6996162
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Tgfb1i1tm1b(KOMP)Wtsi Tgm6tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tgfb1i1tm1b(KOMP)Wtsi Tgm3em2(IMPC)Wtsi Tgm6tm1a(KOMP)Wtsi PMC6671969
Mesenchyme-specific deletion of Tgf-β1 in the embryonic lung disrupts branching morphogenesis and induces lung hypoplasia. Laboratory investigation; a journal of technical methods and pathology (April 2019) Tgfb2tm1c(EUCOMM)Hmgu 31028279
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Hprt1Tg(CMV-Cre)Brd Hprt1Tg(CMV-Cre)Brd Tgfb1i1tm1b(KOMP)Wtsi Tgm6tm1a(KOMP)Wtsi PMC6459510
TGIF transcription factors repress acetyl CoA metabolic gene expression and promote intestinal tumor growth. Genes & development (February 2019) Tgif2tm1a(EUCOMM)Wtsi 30808659
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Tgfb1i1tm1b(KOMP)Wtsi Tgm6tm1a(KOMP)Wtsi PMC5827107
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Tgm2tm1Rmgr PMC5503261
Stepwise reprogramming of liver cells to a pancreas progenitor state by the transcriptional regulator Tgif2. Nature communications (February 2017) Tgif2tm1a(EUCOMM)Wtsi PMC5316826
Two Ancient Gene Families Are Critical for Maintenance of the Mammalian Skin Barrier in Postnatal Life. The Journal of investigative dermatology (March 2016) Tgm5tm2a(KOMP)Wtsi 26975724
A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease models & mechanisms (August 2015) Tgfb1i1tm1b(KOMP)Wtsi PMC4631787
Normal Platelet Integrin Function in Mice Lacking Hydrogen Peroxide-Induced Clone-5 (Hic-5). PloS one (July 2015) Tgfb1i1tm1a(KOMP)Wtsi PMC4501753
Generation of mice carrying a knockout-first and conditional-ready allele of transforming growth factor beta2 gene. Genesis (New York, N.Y. : 2000) (June 2014) Tgfb2tm1c(EUCOMM)Hmgu Tgfb2tm1a(EUCOMM)Hmgu PMC4270118
Genetic disruption of the copulatory plug in mice leads to severely reduced fertility. PLoS genetics (January 2013) Tgm4tm1a(KOMP)Wtsi PMC3547826

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MGI Allele Allele Type Produced
Tgem1(IMPC)J Exon Deletion Mice
Tgtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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