Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandLimb Deformities, Congenital (D017880)
Parent Node:
expandMicrostomia (D008865)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandFaciocardiomelic Dysplasia, Lethal (C565578)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema, Dental Medial (C565098)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTooth Agenesis, Selective, 2 (C566513)
..expandTooth Agenesis, Selective, 3 (C567036)
..expandTooth Agenesis, Selective, 4 (C563634)
..expandTooth Agenesis, Selective, 5 (C565757)
..expandTooth Agenesis, Selective, 6 (C567755)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4088
Name:Faciocardiomelic Dysplasia, Lethal
Definition:
Alternative IDs:
ParentIDs:MESH:D006330|MESH:D008865|MESH:D014071|MESH:D017880
TreeNumbers:C05.660.585/C565578 |C07.465.525.520/C565578 |C07.650.525.520/C565578 |C07.650.800/C565578 |C07.793.700/C565578 |C14.240.400/C565578 |C14.280.400/C565578 |C16.131.240.400/C565578 |C16.131.621.585/C565578 |C16.131.850.525.520/C565578 |C16.131.850.800/C565578
Synonyms:
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease
Reference: MedGen: C565578
MeSH: C565578
OMIM: 227270;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0030680Abnormality of cardiovascular system morphology
3 HP:0003038Fibular hypoplasia
4 HP:0002984Hypoplasia of the radius
5 HP:0003022Hypoplasia of the ulna
6 HP:0000171Microglossia
7 HP:0000347Micrognathia
8 HP:0000160Narrow mouth
9 HP:0003811Neonatal death
10 HP:0009486Radial deviation of the hand
11 HP:0000278Retrognathia
12 HP:0009237Short 5th finger
13 HP:0009778Short thumb
14 HP:0000954Single transverse palmar crease
15 HP:0001518Small for gestational age
16 HP:0001883Talipes
Disease Causing ClinVar Variants