Disease Browser
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Parent Node: Chondrodysplasia Punctata (D002806) | Parent Node: Genetic Diseases, X-Linked (D040181) | ..Starting node ..Chondrodysplasia punctata, brachytelephalangic (C535941)
| Child Nodes:
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Sister Nodes: | ..Aarskog Syndrome (C535331) 1
| ..Abruzzo Erickson syndrome (C535559)
| ..Achromatopsia incomplete, X-linked (C538165)
| ..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
| ..Agammaglobulinemia, X-linked, type 2 (C538057)
| ..Aicardi Syndrome (D058540) 1
| ..Aland Island Eye Disease (C562664)
| ..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
| ..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
| ..Alzheimer Disease 16 (C567463)
| ..Androgen-Insensitivity Syndrome (D013734) 2
| ..Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
| ..Anemia, sideroblastic spinocerebellar ataxia (C536358)
| ..Anemia, X-Linked, without Thrombocytopenia (C564429)
| ..Anencephaly and spina bifida X-linked (C536359)
| ..Aneurysm, Intracranial Berry, 5 (C563670)
| ..Angioma serpiginosum, X-linked (C536366)
| ..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
| ..Arthrogryposis, X-Linked, Type V (C564574)
| ..Arts syndrome (C535388)
| ..Atypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
| ..Atypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
| ..Barth Syndrome (D056889) 2
| ..Bornholm Eye Disease (C564092)
| ..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
| ..Branchial arch syndrome X-linked (C537102)
| ..Brunner Syndrome (C563156)
| ..Bruton type agammaglobulinemia (C537409)
| ..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
| ..Bullous Dystrophy, Hereditary Macular Type (C563065)
| ..Cantu syndrome (C535572)
| ..Cardiac valvular dysplasia, X-linked (C535576)
| ..Cardiomyopathy, Dilated, 3A (C564721)
| ..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
| ..Chondrodysplasia punctata 2, X-linked dominant (C538416)
| ..Chondrodysplasia punctata, brachytelephalangic (C535941)
| ..Choroideremia (D015794) 2
| ..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
| ..Chromosome Xq28 Duplication Syndrome (C567580)
| ..Cleft Palate with Ankyloglossia (C564442)
| ..Cleft palate X-linked (C536426)
| ..Cone Dystrophy, X-Linked, 1 (C564439)
| ..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
| ..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
| ..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
| ..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
| ..Congenital alopecia X-linked (C535981)
| ..Congenital Heart Defects, X-Linked (C567444)
| ..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
| ..Congenital idiopathic intestinal pseudoobstruction (C535532)
| ..Corpus Callosum, Partial Agenesis of, X-Linked (C564115)
| ..Craniofacioskeletal Syndrome (C567471)
| ..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
| ..Deafness, X-Linked 1 (C564433)
| ..Deafness, X-Linked 3 (C564727)
| ..Deafness, X-Linked 4 (C564723)
| ..Deafness, X-Linked 5 (C564472)
| ..Dent Disease (D057973) 1
| ..Dent disease 1 (C538212)
| ..Dent Disease 2 (C564487)
| ..Dyggve-Melchior-Clausen syndrome (C535726)
| ..Dyserythropoietic Anemia with Thrombocytopenia (C564525)
| ..Dyskeratosis Congenita (D019871) 3
| ..Dystonia 3, Torsion, X-Linked (C564048)
| ..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
| ..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
| ..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
| ..Ehlers-Danlos syndrome type 5 (C536197)
| ..Epidermodysplasia Verruciformis, X-Linked (C564430)
| ..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
| ..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
| ..Episodic Muscle Weakness, X-Linked (C564565)
| ..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
| ..Fabry Disease (D000795) 2
| ..Fetal akinesia syndrome, X-linked (C537921)
| ..Fg Syndrome 5 (C564480)
| ..Focal Dermal Hypoplasia (D005489) 1
| ..Glycogen Storage Disease Type IIb (D052120)
| ..Glycogen Storage Disease Type VIII (D006015)
| ..Glycogen Storage Disease, Type IXA2 (C567579)
| ..Glycogen Storage Disease, Type IXD (C564485)
| ..Granulomatous Disease, Chronic (D006105) 7
| ..Hemophilia B (D002836)
| ..Heterotaxy, visceral, X-linked (C538116)
| ..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
| ..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
| ..Hodgkin disease, X-linked pseudoautosomal (C538326)
| ..Hydrocephalus With Cerebellar Agenesis (C564407)
| ..Hydrocephalus, X-linked (C536078)
| ..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
| ..Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1
| ..Hyperekplexia and Epilepsy (C564474)
| ..Hypertrichosis congenital generalized X-linked (C538388)
| ..Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
| ..Hypogammaglobulinemia, X-Linked (C562478)
| ..Hypoparathyroidism, X-Linked (C562782)
| ..Hypospadias 1, X-Linked (C567482)
| ..Hypospadias 2, X-Linked (C567462)
| ..Ichthyosis, X-Linked (D016114) 2
| ..Ichthyosis, X-Linked, Complicated (C567443)
| ..Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
| ..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
| ..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
| ..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
| ..Joubert Syndrome 10 (C567582)
| ..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
| ..Leigh Syndrome, X-Linked (C564114)
| ..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
| ..Liver Glycogenosis, X-Linked, Type II (C564421)
| ..Lymphoproliferative Syndrome, X-Linked, 2 (C564469)
| ..Macrothrombocytopenia, X-Linked (C564526)
| ..Macular Dystrophy, X-Linked (C564110)
| ..Major Affective Disorder 2 (C564108)
| ..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
| ..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
| ..Megalocornea (C562829)
| ..Membranoproliferative Glomerulonephritis, X-Linked (C564423)
| ..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
| ..Mental Retardation, X-Linked (D038901) 134
| ..Mental Retardation, X-Linked, Syndromic 12 (C564106)
| ..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
| ..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
| ..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
| ..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
| ..Mental Retardation, X-Linked, Znf711-Related (C567583)
| ..Microcephaly microcornea syndrome Seemanova type (C537539)
| ..Microphthalmia, Isolated, with Coloboma 1 (C564531)
| ..Microphthalmia, syndromic 7 (C537466)
| ..Midline Defects, X-Linked (C564054)
| ..Mitral valve prolapse, familial, X-linked (C537478)
| ..Modifier, X-Linked, for Neurofunctional Defects (C564098)
| ..Multiple Pterygium Syndrome, X-Linked (C564072)
| ..Muscular Dystrophy, Duchenne (D020388) 1
| ..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
| ..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
| ..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
| ..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
| ..Myopathy, X-Linked, with Excessive Autophagy (C564093)
| ..Myopia 1 (C564091)
| ..Myopia 13 (C564473)
| ..Nance-Horan syndrome (C538336)
| ..Nasodigitoacoustic syndrome (C538337)
| ..NEMO mutation with immunodeficiency (C538399)
| ..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
| ..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
| ..Neural tube defects X-linked (C536410)
| ..Neuropathy, Hereditary Sensory, X-Linked (C564090)
| ..Neutropenia, Severe Congenital, X-Linked (C564539)
| ..Night blindness, congenital stationary (C536122) 4
| ..Nystagmus 5, Infantile Periodic Alternating (C564478)
| ..Oculocerebrorenal Syndrome (D009800) 1
| ..Ophthalmoplegia, External, and Myopia (C564087)
| ..Opitz GBBB Syndrome, X-Linked (C567932)
| ..Optic atrophy, X-linked (C537125)
| ..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
| ..Ovarian Dysgenesis 2 (C564499)
| ..Panhypopituitarism X-linked (C538613)
| ..Parathyroid Glands, Agenesis Of (C563238)
| ..Parkinson Disease 12 (C564486)
| ..Parkinsonism, early onset with mental retardation (C537179)
| ..Pelizaeus-Merzbacher Disease (D020371) 1
| ..Phosphoglycerate Kinase 1 Deficiency (C567067)
| ..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
| ..Premature Ovarian Failure 2a (C564498)
| ..Progressive hearing loss stapes fixation (C536424)
| ..Properdin Deficiency, Type II (C564075)
| ..Properdin Deficiency, Type III (C564076)
| ..Properdin deficiency, X-linked (C537241)
| ..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
| ..Prostate Cancer, Hereditary, X-Linked 2 (C567477)
| ..Protoporphyria, Erythropoietic, X-Linked Dominant (C567464)
| ..Proud Syndrome (C563110)
| ..Ptosis, Hereditary Congenital 2 (C564553)
| ..Radial Ray Deficiency, X-Linked (C564523)
| ..Radiation Sensitivity of Natural Killer Activity (C564066)
| ..Radius absent anogenital anomalies (C535281)
| ..Reticuloendotheliosis, X-linked (C538362)
| ..Retinitis Pigmentosa 3 (C564520)
| ..Retinitis Pigmentosa 34 (C564475)
| ..Retinitis Pigmentosa 6 (C564065)
| ..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
| ..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
| ..Russell-Silver Syndrome, X-Linked (C562446)
| ..Short Stature, Idiopathic, X-Linked (C564479)
| ..Simpson-Golabi-Behmel syndrome (C537340)
| ..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567)
| ..Sketetal dysplasia coarse facies mental retardation (C536671)
| ..Spastic paraplegia 16, X-linked (C536643)
| ..Spastic paraplegia 2, X-linked (C536857)
| ..Spastic Paraplegia 34, X-Linked (C567465)
| ..Spina Bifida, X-Linked (C564459)
| ..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
| ..Spinocerebellar Ataxia, X-Linked 1 (C563134)
| ..Spinocerebellar Ataxia, X-Linked 5 (C567478)
| ..Spinocerebellar ataxia, X-linked, 3 (C537315)
| ..Split-Hand Foot Malformation 2 (C564056) 1
| ..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
| ..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
| ..Spondylometaphyseal Dysplasia, X-Linked (C563124)
| ..Surfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
| ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
| ..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
| ..Testicular Germ Cell Tumor 1 (C564559)
| ..Thrombocytopenia 1 (C564052)
| ..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
| ..Thrombocytopenia, X-Linked, Intermittent (C564053)
| ..Thrombocytosis, Familial X-Linked (C564532)
| ..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
| ..Thyroxine-Binding Globulin Deficiency (C564049)
| ..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
| ..Torticollis keloids cryptorchidism renal dysplasia (C536970)
| ..VACTERL Association With Hydrocephalus (C564751)
| ..VACTERL association with hydrocephaly, X-linked (C536520)
| ..Vasquez Hurst Sotos syndrome (C536533)
| ..Vesicoureteral Reflux, X-Linked (C564042)
| ..Von Willebrand Disease, X-Linked Form (C564041)
| ..Wells Jankovic syndrome (C536692)
| ..Wieacker syndrome (C536703)
| ..Wiskott-Aldrich Syndrome (D014923) 1
| ..X Inactivation, Familial Skewed, 1 (C564716)
| ..X Inactivation, Familial Skewed, 2 (C564572)
| ..X-linked adrenal hypoplasia congenita (C536757)
| ..X-Linked Chondrodysplasia Punctata 1 (C580533)
| ..X-Linked Combined Immunodeficiency Diseases (D053632) 1
| ..X-Linked Infantile Nystagmus (C580539)
| ..X-linked sideroblastic anemia (C536761)
| ..X-linked tetra-amelia (C536497)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 2134 |
Name: | Chondrodysplasia punctata, brachytelephalangic |
Definition: | |
Alternative IDs: | OMIM:302950 |
ParentIDs: | MESH:D002806|MESH:D040181 |
TreeNumbers: | C05.116.099.708.195/C535941 |C16.320.322/C535941 |
Synonyms: | Brachytelephalangic Chondrodysplasia Punctata |CDPX1 |Chondrodysplasia punctata 1, X-linked recessive |CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC |Chondrodysplasia Punctata, Brachytelephalangic, Autosomal |CPXR |
Slim Mappings: | Genetic disease (inborn)|Musculoskeletal disease |
Reference: |
MedGen: C535941
MeSH: C535941
OMIM: 302950;
Genes: ARSE; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000047.2(ARSE):c.1743G>A (p.Trp581Ter) | 415 | ARSE | Pathogenic | 80338714 | RCV000012285; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2852900 | 2852900 | NM_000047.2:c.1743G>A | NP_000038.2:p.Trp581Ter | NC_000023.10:g.2852900C>T | OMIM Allelic Variant:300180.0008 | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.1732C>T (p.Pro578Ser) | 415 | ARSE | Pathogenic | 28935474 | RCV000012284; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2852911 | 2852911 | NM_000047.2:c.1732C>T | NP_000038.2:p.Pro578Ser | NC_000023.10:g.2852911G>A | OMIM Allelic Variant:300180.0007 | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.1475G>A (p.Cys492Tyr) | 415 | ARSE | Pathogenic | 122460155 | RCV000012283; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2853168 | 2853168 | NM_000047.2:c.1475G>A | NP_000038.2:p.Cys492Tyr | NC_000023.10:g.2853168C>T | OMIM Allelic Variant:300180.0006 | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.1442C>T (p.Thr481Met) | 415 | ARSE | Pathogenic | 80338713 | RCV000020091; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2853201 | 2853201 | NM_000047.2:c.1442C>T | NP_000038.2:p.Thr481Met | NC_000023.10:g.2853201G>A | - | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.733G>C (p.Gly245Arg) | 415 | ARSE | Pathogenic | 122460154 | RCV000012282; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2867466 | 2867466 | NM_000047.2:c.733G>C | NP_000038.2:p.Gly245Arg | NC_000023.10:g.2867466C>G | OMIM Allelic Variant:300180.0005 | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.410G>T (p.Gly137Val) | 415 | ARSE | Pathogenic | 80338711 | RCV000012281; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2871204 | 2871204 | NM_000047.2:c.410G>T | NP_000038.2:p.Gly137Val | NC_000023.10:g.2871204C>A,NC_000023.10:g.2871204C>G | OMIM Allelic Variant:300180.0004 | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.410G>C (p.Gly137Ala) | 415 | ARSE | Pathogenic;Uncertain significance | 80338711 | RCV000020092; RCV000169650; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345; MedGen:CN169374 | X | 2871204 | 2871204 | NM_000047.2:c.410G>C | NP_000038.2:p.Gly137Ala | NC_000023.10:g.2871204C>A,NC_000023.10:g.2871204C>G | - | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive; CN169374 not specified | | | NM_000047.2(ARSE):c.349G>A (p.Gly117Arg) | 415 | ARSE | Pathogenic | 122460152 | RCV000012279; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2871265 | 2871265 | NM_000047.2:c.349G>A | NP_000038.2:p.Gly117Arg | NC_000023.10:g.2871265C>T | OMIM Allelic Variant:300180.0002 | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.337C>T (p.Leu113Phe) | 415 | ARSE | Likely pathogenic | 145946864 | RCV000145030; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2871277 | 2871277 | NM_000047.2:c.337C>T | NP_000038.2:p.Leu113Phe | NC_000023.10:g.2871277G>A | - | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.332G>C (p.Arg111Pro) | 415 | ARSE | Pathogenic | 122460153 | RCV000012280; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2871282 | 2871282 | NM_000047.2:c.332G>C | NP_000038.2:p.Arg111Pro | NC_000023.10:g.2871282C>G | OMIM Allelic Variant:300180.0003 | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.119T>G (p.Ile40Ser) | 415 | ARSE | Pathogenic | 80338710 | RCV000020090; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2876381 | 2876381 | NM_000047.2:c.119T>G | NP_000038.2:p.Ile40Ser | NC_000023.10:g.2876381A>C | - | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | | NM_000047.2(ARSE):c.36G>C (p.Arg12Ser) | 415 | ARSE | Pathogenic;Uncertain significance | 122460151 | RCV000012278; | N | MedGen:C1844853,OMIM:302950,ORPHA:79345 | X | 2876464 | 2876464 | NM_000047.2:c.36G>C | NP_000038.2:p.Arg12Ser | NC_000023.10:g.2876464C>G | OMIM Allelic Variant:300180.0001 | C1844853 302950 Chondrodysplasia punctata 1, X-linked recessive | | |
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