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:
expandAgenesis of Corpus Callosum (D061085)
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandLimb Deformities, Congenital (D017880)
Parent Node:
expandPierre Robin Syndrome (D010855)
Parent Node:
expandUrogenital Abnormalities (D014564)
..Starting node
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)

       Child Nodes:



 Sister Nodes: 
..expandAllanson Pantzar McLeod syndrome (C537048) Child1
..expandANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..expandAtrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBladder Exstrophy (D001746) Child1
..expandCalabro syndrome (C537960)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCryptorchidism (D003456) Child12
..expandDisorders of Sex Development (D012734) Child107
..expandDK Phocomelia Syndrome (C565618)
..expandDuker Weiss Siber syndrome (C535719)
..expandEpispadias (D004842) Child1
..expandGenitopatellar Syndrome (C565255)
..expandGenitourinary Tract Anomalies (C564424)
..expandHand foot uterus syndrome (C535627)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHypospadias (D007021) Child17
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLissencephaly, X-Linked, 2 (C564563)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandMyotubular Myopathy with Abnormal Genital Development (C564561)
..expandNephritis, Hereditary (D009394) Child11
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPopliteal Pterygium Syndrome (C562509)
..expandProud Syndrome (C563110)
..expandPyelectasis (D058536)
..expandRenal Adysplasia (C563261)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal, Genital, and Middle Ear Anomalies (C564849)
..expandRetrocaval Ureter (D064749)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandUreter, Bifid Or Double (C566012)
..expandUrinary Fistula (D014548) Child2
..expandUterine Anomalies (C562565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2773
Name:Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Definition:
Alternative IDs:
ParentIDs:MESH:D006330|MESH:D010855|MESH:D014564|MESH:D017880|MESH:D019465|MESH:D061085
TreeNumbers:C05.500.460.606/C563127 |C05.660.207.540.460.606/C563127 |C05.660.207/C563127 |C05.660.585/C563127 |C07.320.440.606/C563127 |C07.650.500.460.606/C563127 |C10.500.034/C563127 |C12.706/C563127 |C13.351.875/C563127 |C14.240.400/C563127 |C14.280.400/C563127 |C16.131.24
Synonyms:Toriello-Carey Syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C563127
MeSH: C563127
OMIM: 217980;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001671Abnormal cardiac septum morphology
3 HP:0030680Abnormality of cardiovascular system morphology
4 HP:0001600Abnormality of the larynx
5 HP:0000377Abnormality of the pinna
6 HP:0001274Agenesis of corpus callosum
7 HP:0001545Anteriorly placed anus
8 HP:0000463Anteverted nares
9 HP:0000581Blepharophimosis
10 HP:0001156Brachydactyly
11 HP:0001638Cardiomyopathy
12 HP:0001321Cerebellar hypoplasia
13 HP:0000175Cleft palate
14 HP:0030084Clinodactyly
15 HP:0000028Cryptorchidism
16 HP:0005280Depressed nasal bridge
17 HP:0002714Downturned corners of mouth
18 HP:0000293Full cheeks
19 HP:0001290Generalized hypotonia
20 HP:0100790Hernia
21 HP:0000316Hypertelorism
22 HP:0000047Hypospadias
23 HP:0001252Hypotonia
24 HP:0001249Intellectual disability
25 HP:0008749Laryngeal hypoplasia
26 HP:0000252Microcephaly
27 HP:0000347Micrognathia
28 HP:0000774Narrow chest
29 HP:0002643Neonatal respiratory distress
30 HP:0001643Patent ductus arteriosus
31 HP:0000201Pierre-Robin sequence
32 HP:0009623Proximal placement of thumb
33 HP:0000508Ptosis
34 HP:0005989Redundant neck skin
35 HP:0002098Respiratory distress
36 HP:0000470Short neck
37 HP:0003196Short nose
38 HP:0004279Short palm
39 HP:0012745Short palpebral fissure
40 HP:0001159Syndactyly
41 HP:0000506Telecanthus
42 HP:0002777Tracheal stenosis
43 HP:0002779Tracheomalacia
44 HP:0000260Wide anterior fontanel
Disease Causing ClinVar Variants