Gene Summary

Name:
thyroglobulin
Synonyms:
Tgn

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
improved glucose tolerance Tgem1(IMPC)J HOM   Early adult 1.52×10-05
hypoactivity Tgem1(IMPC)J HOM Early adult 5.09×10-07
decreased exploration in new environment Tgem1(IMPC)J HOM Early adult 4.50×10-10
male infertility Tgem1(IMPC)J HOM Early adult 0.00
increased fasting circulating glucose level Tgem1(IMPC)J HOM Early adult 2.60×10-21
decreased vertical activity Tgem1(IMPC)J HOM Early adult 8.77×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Auditory Brain Stem Response

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

1 Images

Human diseases caused by Tg mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... 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, Goiter, Thyroid carcinoma OMIM:274700
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
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 Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immunity, Lymphopenia,... ORPHA:277
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Blepharochalasis And Double Lip
Goiter OMIM:109900
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Mental Retardation, Autosomal Recessive 60
Delayed puberty, Delayed myelination, Small for gestational age OMIM:617432
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter OMIM:180295
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter, Nodular goiter ORPHA:319487
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Goiter, Nodular goiter ORPHA:97290
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Anxiety OMIM:614296
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Pancytopenia, Small for gestational age, Primary gon... OMIM:210740
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Pes planus, Talocalcaneal synostosis, Sandal gap, Wide capital fe... OMIM:147891
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level OMIM:212050
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Immunodeficiency 70
Plantar warts, Furuncle, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis... OMIM:618969
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, T lymphocytopenia, Partial absence of specific an... OMIM:618108
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Papular Xanthoma
Histiocytosis ORPHA:158008
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Decreased circulating IgE, Decreased baso... OMIM:618394
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Pendred Syndrome
Thyroid carcinoma, Hypothyroidism, Goiter, Hyperparathyroidism ORPHA:705
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Graves Disease, Susceptibility To, 1
Graves disease, Goiter OMIM:275000
Hyperlipoproteinemia, Type Id
Splenomegaly, Failure to thrive, Colitis OMIM:615947
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Beukes Hip Dysplasia
Hip dysplasia, Shallow acetabular fossae, Avascular necrosis of the capital femoral epiphysis, Ir... OMIM:142669
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Flared fem... OMIM:609324
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Polydactyly, Atypical scarring of skin, Syndactyly, Small for gestational ... ORPHA:294975
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Min... OMIM:617006
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Splenomegaly, Anemia, Abnormality of f... ORPHA:1802
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Genu valgum, Acetabular dysplasia, Talipes equinovarus, Coxa valga OMIM:613618
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Primary hyperparathyroidism, Nodular goiter, Medullary thy... ORPHA:1332
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Masp2 Deficiency
Complement deficiency, Ulcerative colitis, Recurrent pneumonia OMIM:613791
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Short proximal phalanx of thumb, Micrognathia, Short middle phalanx of finger,... OMIM:251190
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Neoplasm of the adrenal cortex, Para... ORPHA:163634
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly, Cleft palate, High palate, Recurrent aspiration pneumonia OMIM:300484
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, Common Variable, 8, With Autoimmunity
Clubbing of fingers, Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccina... OMIM:614700
Coxopodopatellar Syndrome
Hip dysplasia, Abnormality of the knee, Abnormality of epiphysis morphology, Aplasia/Hypoplasia o... ORPHA:1509
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Failure to thrive OMIM:615607
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Feeding difficulties, Decreased circulating antibody level... OMIM:607143
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydactyly, Glossopt... ORPHA:440354
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Diarrhea, R... OMIM:266600
Spinocerebellar Ataxia Type 32
Azoospermia, Progressive cerebellar ataxia, Testicular atrophy, Cognitive impairment, Male infert... ORPHA:276183
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Weight loss, Increased cir... ORPHA:449400
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Short tibia, Ulnar bowing, Nephritis OMIM:127350
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hemophagocytosis, Decreased circulating antibo... OMIM:300635
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cellulitis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Hepatosplenome... OMIM:604416
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Failure to thrive OMIM:613501
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Failure to thrive, Splenomegaly OMIM:618495
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis ORPHA:83601
Congenital Atransferrinemia
Hypothyroidism, Anemia ORPHA:1195
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Metaphyseal dyspla... OMIM:250460
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter ORPHA:142
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 level, Congenital hypothyroidism, Goiter, Elevated circulating thyroid-s... ORPHA:226313
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Ivic Syndrome
Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar synostosis, Leukocytosi... OMIM:147750
Epiphyseal Dysplasia, Multiple, 7
Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi... OMIM:617719
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Diarrhea, Failure to thrive, Splenome... OMIM:269840
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Increased circulating IgE level, Hypoplastic iliac wing, Short distal phalanx of f... ORPHA:1858
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Distal Arthrogryposis Type 1
Overlapping fingers, Camptodactyly of finger, Rocker bottom foot, Talipes, Abnormal hip bone morp... ORPHA:1146
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an... ORPHA:411593
Hypochondroplasia
Aplasia/hypoplasia of the extremities, Short long bone, Flared metaphysis, Genu varum, Brachydact... OMIM:146000
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Failure to thrive, Decreased circulating IgG ... OMIM:256500
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Micrognathia, Femoral bowing, Elbow f... OMIM:601559
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Epiphyseal dysplasia, Double-layered patella, Short metacarpal, Talipes equinovaru... OMIM:226900
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Neutropenia, Coliti... OMIM:209920
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Ataxia OMIM:618970
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Talipes equinovarus, Overlapping toe, Fibular hypoplasia, Clin... OMIM:201170
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Autoinflammation With Infantile Enterocolitis
Skin rash, Reduced natural killer cell activity, Villous atrophy, Pancytopenia, Thrombocytopenia,... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Omphalocele, Bilateral cleft lip and palate, Amelia OMIM:601357
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Neutropenia, Colitis, Diarrhea... OMIM:608809
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Hip osteoarthritis,... ORPHA:99642
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Neutropeni... ORPHA:525731
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Palmoplantar keratoderma, Obesity ORPHA:2206
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Thyroid C cell hyperplasia, Parathyroid a... OMIM:171400
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Knee osteoarthri... ORPHA:93356
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Lymphopenia, ... OMIM:615816
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Gastrointestinal atresia, Abnormality of long bone morphology, Polydac... ORPHA:1505
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Neoplasm... ORPHA:457059
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618261
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Hamartoma of tongue, Postaxial po... OMIM:258860
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Absent isohemagglutinin level, Increased p... OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Increased circulating antibody level, Decrea... ORPHA:169160
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Abdominal pain, Weight loss, Diarrhea OMIM:191390
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Weight loss, Histiocytosis, Increa... OMIM:209950
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Microglossia, Smal... OMIM:227270
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615108
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Decreased proportion of CD8-positive T cells, Chronic oral candidiasis,... ORPHA:911
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Cognitive impairment, Memory impairment, Attention deficit... ORPHA:369873
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Weight loss, Hernia, Nausea an... ORPHA:26790
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Pustule, T lymphocytopenia, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Toe syndactyly, Abnormality of epiphysi... ORPHA:3409
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Nasogastric tube feeding, Hip sublu... ORPHA:356961
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615109
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Thyroid follicular hyperplas... OMIM:160980
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter, Hashimoto thyroiditis OMIM:616858
Immunodeficiency 15B
Decreased circulating antibody level, Chronic diarrhea, Agammaglobulinemia, Failure to thrive OMIM:615592
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Abnormal sacroiliac joint morphology, Abnor... ORPHA:324964
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Increased circulating antibody level, Thrombocytopenia, Clinodactyly, Failure to thriv... OMIM:618048
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Adducted thumb, S... OMIM:616897
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Short femur, Split hand, Hypoplastic ilia, Short greater sc... ORPHA:1860
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Irregular patellae, Patellar hypoplasia, Genu varum, Short femoral neck, Epiphyseal dysplasia, Br... OMIM:609325
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Hip osteoarthritis, Irregular epiphyses, Short metacarpal, ... OMIM:132400
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Short metacarpa... OMIM:211350
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Dementia, Progressive cerebellar ataxia, Anxiety, Diabete... ORPHA:411590
Congenital Hypothyroidism
Goiter, Hypothyroidism, Abnormality of the thyroid gland, Hypogonadism, Thyroid dysgenesis, Anter... ORPHA:442
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dysplasia, Short ... OMIM:268305
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue, Truncal obesity, Ulnar deviation of finger, Brachydacty... ORPHA:2928
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly, Camptodactyly, Cleft palate, Hi... OMIM:258865
Czech Dysplasia
Short toe, Short metatarsal, Flexion contracture, Narrow iliac wing, Narrow femoral neck, Coxa va... OMIM:609162
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hypochondroplasia
Short toe, Bowing of the long bones, Genu varum, Abnormality of femur morphology, Abnormality of ... ORPHA:429
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Hydrocephalus With Associated Malformations
Intestinal malrotation, Omphalocele, Tibial bowing, Lower limb undergrowth, Short lower limbs, Mi... OMIM:236640
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Duodenitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Failure to t... OMIM:614328
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... ORPHA:1190
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circ... OMIM:614699
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bones of the extre... ORPHA:94068
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis OMIM:615234
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, High palate, Mic... ORPHA:1106
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob... OMIM:618131
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Metaphyseal irregularity, Joint contracture of the 5th finger, Narrow iliac wing, Ps... OMIM:601668
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Ovarian carcinoma, Thyroid a... OMIM:158350
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Cleft palate, Talipes ... OMIM:251230
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Increa... OMIM:614450
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Myocarditis, Increased B ce... ORPHA:2442
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Brachydactyly, Hip dislocation, Short thumb, S... ORPHA:968
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Weight loss, Pancytopenia, ... ORPHA:507
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Abnormality of epiphysis morphology, Neutropenia, Decreased circulating total ... ORPHA:2643
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Hamartoma of tongue, Intestinal malrotat... OMIM:613091
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Acetabular dysplasia, Double-layered patella, Short thumb, High palate, Short f... ORPHA:93307
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Increased circulating IgM level, Bronchiectasis, Micrognathia, P... OMIM:242860
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Atypical scarring of skin, Abdominal pain ORPHA:46487
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri... OMIM:616740
Okur-Chung Neurodevelopmental Syndrome
Feeding difficulties, Micrognathia, Decreased circulating antibody level, Constipation, Clinodact... OMIM:617062
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Congenital generalized lipodystrophy, Slender long bones with narrow ... OMIM:608154
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Colitis, Leukopenia, Bone marrow hypoc... OMIM:615190
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Classic Galactosemia
Premature ovarian insufficiency, Dystonia, Lethargy, Decreased fertility in females, Oligomenorrh... ORPHA:79239
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Failure to thrive in infancy, Colitis, Corneal scarring, Increa... OMIM:301220
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Failure to thrive in infancy, Increased proportion... OMIM:617099
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Panniculitis-Induced Localized Lipodystrophy
Lipoatrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Abnormal immunoglo... ORPHA:90159
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Hepatitis, Diarrhea, Small for gestational age, Failure to thrive OMIM:614602
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Interstitial pneumonitis, Ulcerative colitis, Decreased circulating IgA level, Decrea... OMIM:614878
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Esophagitis, Eosinophilic, 2
Esophagitis, Dysphagia, Failure to thrive, Vomiting, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Dysphagia, Failure to thrive, Vomiting, Eosinophilia OMIM:610247
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Recurrent otitis media, Rhizomelia, Metaphys... OMIM:608940
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Metaphyseal irregularity, Pes planus, Narrow pelvis ... OMIM:610797
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of... ORPHA:2370
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Abnormality of the pituitary gland, Male hypogonadism, Elevated circ... ORPHA:91347
Macrocephaly/Autism Syndrome
Obesity, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Aspergillosis
Increased circulating IgE level, Neutropenia, Eosinophilia ORPHA:1163
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidos... OMIM:618858
Familial Multinodular Goiter
Ovarian neoplasm, Multinodular goiter, Sertoli cell neoplasm, Testicular seminoma, Thyroid carcinoma ORPHA:276399
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Nausea, Gastroesophageal r... ORPHA:411696
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Jeune Syndrome
Abnormality of pelvic girdle bone morphology, Postaxial hand polydactyly, Toe syndactyly, Cone-sh... ORPHA:474
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... ORPHA:99832
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent gastroenteritis, Chronic oral candidiasis, Decreased proportion of CD3-posit... ORPHA:275
Familial Male-Limited Precocious Puberty
Male infertility, Attention deficit hyperactivity disorder, Oligospermia ORPHA:3000
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity, Abnormal T cell morphology, Imb... ORPHA:330015
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Abnormal hip bone morphology, Cleft ... ORPHA:2725
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bones, Recurrent ... ORPHA:2502
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Irritability ORPHA:2089
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Rhizomelic Chondrodysplasia Punctata, Type 2
Stippled calcification proximal humeral epiphyses, Rhizomelia, Flexion contracture, Short humerus... OMIM:222765
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Enamel hypoplasia, Hip dysplasia, Decreased specific anti-po... OMIM:614576
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Genu valgum, Rhizomelia, Short long bone, Abnormal femoral head morphology... ORPHA:239
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Hitchhiker thumb, Short middle phalanx of finger, Short greater sciatic no... OMIM:256050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Elevated calcitonin, Pheochromocytoma, Nodular goiter, Medullary thyroid... OMIM:162300
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Metaphyseal irregularity, Central vertebral hypoplasia, Limb undergrowth, S... OMIM:602557
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Cyclic Neutropenia
Peritonitis, Cellulitis, Abdominal pain, Decreased eosinophil count, Periodontitis, Tooth abscess... ORPHA:2686
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Thoracomelic Dysplasia
Genu valgum, Limb undergrowth, Short ribs, Abnormality of the metaphysis, Abnormality of fibula m... ORPHA:1803
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Failure to thrive, He... OMIM:618999
Pten Hamartoma Tumor Syndrome
Thyroid adenoma, Thyroid carcinoma, Multinodular goiter ORPHA:306498
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Elbow flexion contracture, Femoral bowing, Short femur, Enlarged metaphyses, Flexio... OMIM:210710
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Diabetic ketoacidosis, ... ORPHA:99886
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Hemophagocytosis, Increased serum interferon-gamma level, Erythroderma, Decreased circ... ORPHA:540
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Small for gestational age, Hyperglycemia, Diab... OMIM:606176
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Neutropenia, Reticulocytopenia, Pancytopenia, Diarrhea, Decrease... OMIM:275350
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myeloid leukemia, Atrophic scars, Rheumatoid arthri... ORPHA:48104
Occipital Horn Syndrome
Large iliac wing, Pes planus, Gastroparesis, Abnormality of fibula morphology, High, narrow palat... ORPHA:198
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyly, Pate... OMIM:119800
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Tibial bowing, Bowing of the legs, Enamel... OMIM:307800
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... OMIM:240500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Hepatospleno... OMIM:618963
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Decreased... OMIM:600002
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ulcerative colit... OMIM:618935
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Hamartoma of tongue, Postaxial polydactyly, Hypoplastic pubic bone, Short r... OMIM:617925
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Hypoplasia of the ulna, Pelvic bone ... ORPHA:321
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Shigellosis
Peritonitis, Pneumonia, Failure to thrive in infancy, Anorexia, Myocarditis, Vomiting, Bloody dia... ORPHA:810
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Increased circulating IgG level, Leukopenia, Type II ... ORPHA:2298
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunoglobulin A Deficiency 1
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:137100
Coxoauricular Syndrome
Hip dislocation, Abnormality of pelvic girdle bone morphology, Micromelia, Abnormality of femur m... ORPHA:1508
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Lung abscess, Constrictive pericarditis, Abdominal pain, Leukocytosis, Weight loss... ORPHA:67
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Cleft palate, ... ORPHA:3320
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Weismann-Netter Syndrome
Squared iliac bones, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing OMIM:112350
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Spermatogenic Failure 6