Disease Browser
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Parent Node: Abnormalities, Multiple (D000015) | Parent Node: Dwarfism (D004392) | Parent Node: Facies (D019066) | ..Starting node ..Fibrochondrogenesis (C562524)
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Sister Nodes: | ..Al Gazali Aziz Salem syndrome (C535613)
| ..Al Gazali Hirschsprung syndrome (C535615)
| ..Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
| ..Aortic arch anomaly with peculiar facies and mental retardation (C537785)
| ..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
| ..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
| ..Beemer Ertbruggen syndrome (C537668)
| ..Boomerang dysplasia (C536573)
| ..Bowen syndrome (C538164)
| ..Brachytelephalangy characteristic facies Kallmann (C537101)
| ..Brooks-Wisniewski-Brown Syndrome (C563154)
| ..Brunoni syndrome (C537408)
| ..Burn-Mckeown syndrome (C537411)
| ..C SYNDROME (OMIM:211750)
| ..Cardiofaciocutaneous syndrome (C535579)
| ..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
| ..Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type (C566137)
| ..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
| ..Chromosome 10q26 Deletion Syndrome (C567182)
| ..Chromosome 5p13 Duplication Syndrome (C567717)
| ..Chromosome Xq28 Duplication Syndrome (C567580)
| ..Clark-Baraitser syndrome (C536208)
| ..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
| ..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
| ..Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism (C564241)
| ..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
| ..Cree Mental Retardation Syndrome (C564654)
| ..Crisponi syndrome (C536214)
| ..Crumpled helices and small mouth (C536217)
| ..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
| ..Cyprus facial neuromusculoskeletal syndrome (C536229)
| ..Davis Lafer syndrome (C535989)
| ..Deafness-Craniofacial Syndrome (C565118)
| ..Der Kaloustian Mcintosh Silver syndrome (C538217)
| ..Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis (C563796)
| ..Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
| ..Disproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
| ..Dubowitz syndrome (C535718)
| ..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
| ..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
| ..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
| ..Ectrodactyly cardiopathy dysmorphism (C536187)
| ..Edinburgh Malformation Syndrome (C563051)
| ..FACES syndrome (C536384)
| ..Facial Dysmorphism with Multiple Malformations (C565579)
| ..Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
| ..Faciocardiomelic Syndrome (C567176)
| ..Feingold Trainer syndrome (C536179)
| ..Fibrochondrogenesis (C562524)
| ..Fibromatosis, Gingival, with Distinctive Facies (C565567)
| ..Filippi syndrome (C538152)
| ..Fryns Macrocephaly (C563963)
| ..Fryns syndrome (C538070)
| ..Fryns-Aftimos Syndrome (C565258)
| ..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
| ..Giacheti Syndrome (C567864)
| ..Granddad Syndrome (C564211)
| ..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
| ..Growth mental deficiency syndrome of Myhre (C537620)
| ..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
| ..Hadziselimovic Syndrome (C567850)
| ..Haspeslagh Fryns Muelenaere syndrome (C535844)
| ..Holoprosencephaly 10 (C567278)
| ..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
| ..Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731)
| ..Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
| ..Hypotonia, Seizures, And Precocious Puberty (C567566)
| ..Iris dysplasia hypertelorism deafness (C535537)
| ..Irons Bhan syndrome (C535539)
| ..Kahrizi Syndrome (C567196)
| ..Kaufman oculocerebrofacial syndrome (C537013)
| ..KBG syndrome (C537015)
| ..Kozlowski Rafinski Klicharska syndrome (C537509)
| ..Kozlowski-Krajewska syndrome (C537615)
| ..Larsen-Like Syndrome (C563914)
| ..Leri pleonosteosis (C537118)
| ..Lichtenstein syndrome (C535894)
| ..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
| ..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
| ..Macrocephaly Autism Syndrome (C565342)
| ..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
| ..Malocclusion and Short Stature (C565421)
| ..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
| ..McDonough syndrome (C538158)
| ..McPherson Clemens syndrome (C538160)
| ..Mental Retardation, Buenos Aires Type (C563095)
| ..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
| ..Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
| ..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
| ..Microcephaly cervical spine fusion anomalies (C537325)
| ..Microcephaly deafness syndrome (C537326)
| ..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
| ..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
| ..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
| ..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
| ..Mowat-Wilson syndrome (C536990)
| ..Multiple Pterygium Syndrome, X-Linked (C564072)
| ..NF1 Microduplication Syndrome (C567173)
| ..Nicolaides Baraitser syndrome (C536116)
| ..Night blindness skeletal anomalies unusual facies (C536121)
| ..Omodysplasia 2 (C567664)
| ..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
| ..Osteolysis syndrome recessive (C536052)
| ..Otoonychoperoneal Syndrome (C564912)
| ..Palant cleft palate syndrome (C538102)
| ..Partington Anderson syndrome (C536299)
| ..Pfeiffer Palm Teller syndrome (C537889)
| ..Pierre Robin Sequence with Facial and Digital Anomalies (C564078)
| ..Pitt-Hopkins syndrome (C537403)
| ..Pituitary Hormone Deficiency, Combined, 1 (C567803)
| ..Plantar Lipomatosis, Unusual Facies, and Developmental Delay (C566559)
| ..Progeroid Facial Appearance with Hand Anomalies (C566563)
| ..Radioulnar synostosis retinal pigment abnormalities (C536270)
| ..Ramos Arroyo Clark syndrome (C535286)
| ..Renal and Mullerian Duct Hypoplasia (C564853)
| ..Renal dysplasia - limb defects syndrome (C537754)
| ..Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
| ..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
| ..Roifman-Chitayat Syndrome (C567641)
| ..Rudiger Syndrome (C562912)
| ..Ruvalcaba Syndrome (C579395)
| ..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
| ..Seckel Syndrome 3 (C563881)
| ..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
| ..Shprintzen omphalocele syndrome (C537329)
| ..Spastic paraplegia 23 (C536859)
| ..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
| ..Spinocerebellar Ataxia with Dysmorphism (C564802)
| ..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
| ..Thakker Donnai syndrome (C536503)
| ..Thomas Jewett Raines syndrome (C536513)
| ..Thrombocytopenia Robin sequence (C536898)
| ..Trichohepatoenteric Syndrome (C565627)
| ..Trichorhinophalangeal Syndrome, Type III (C566033)
| ..Urofacial syndrome (C536480)
| ..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
| ..White forelock with malformations (C536700)
| ..Winter Harding Hyde syndrome (C536712)
| ..Young Simpson syndrome (C536717)
| ..Zechi-Ceide Syndrome (C567865)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 4270 |
Name: | Fibrochondrogenesis |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000015|MESH:D004392|MESH:D019066 |
TreeNumbers: | C05.116.099.343/C562524 |C16.131.077/C562524 |C16.320.240/C562524 |C19.297/C562524 |C23.550.291.812/C562524 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) |
Reference: |
MedGen: C562524
MeSH: C562524
OMIM: 228520;
Genes: COL11A1; | 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_080629.2(COL11A1):c.3277G>C (p.Gly1093Arg) | 1301 | COL11A1 | Pathogenic | 397514455 | RCV000022495; | N | MedGen:C0265282,OMIM:228520,ORPHA:2021,SNOMED CT:17144009 | 1 | 103412440 | 103412440 | NM_080629.2:c.3277G>C | NP_542196.2:p.Gly1093Arg | NC_000001.10:g.103412440C>G | OMIM Allelic Variant:120280.0009 | C0265282 228520 Fibrochondrogenesis | | | NM_080629.2(COL11A1):c.2386G>C (p.Gly796Arg) | 1301 | COL11A1 | Pathogenic | 387906611 | RCV000022496; | N | MedGen:C0265282,OMIM:228520,ORPHA:2021,SNOMED CT:17144009 | 1 | 103455118 | 103455118 | NM_080629.2:c.2386G>C | NP_542196.2:p.Gly796Arg | NC_000001.10:g.103455118C>G | OMIM Allelic Variant:120280.0010 | C0265282 228520 Fibrochondrogenesis | | | NM_001854.3(COL11A1):c.1786dupG (p.Ala596Glyfs) | 1301 | COL11A1 | Pathogenic | 730882190 | RCV000022494; | N | MedGen:C0265282,OMIM:228520,ORPHA:2021,SNOMED CT:17144009 | 1 | 103471629 | 103471629 | NM_001854.3:c.1786dupG | NP_001845.3:p.Ala596Glyfs | NC_000001.10:g.103471629dupC | OMIM Allelic Variant:120280.0008 | C0265282 228520 Fibrochondrogenesis | | |
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