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:
expandCleft Palate (D002972)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandUrogenital Abnormalities (D014564)
..Starting node
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)

       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:2426
Name:Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
Definition:
Alternative IDs:
ParentIDs:MESH:D002972|MESH:D006228|MESH:D006330|MESH:D014564
TreeNumbers:C05.390.408/C563936 |C05.500.460.185/C563936 |C05.660.207.540.460.185/C563936 |C05.660.585.988.425/C563936 |C07.320.440.185/C563936 |C07.465.525.185/C563936 |C07.650.500.460.185/C563936 |C07.650.525.185/C563936 |C12.706/C563936 |C13.351.875/C563936 |C14.240.400/C5
Synonyms:Acrocardiofacial Syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C563936
MeSH: C563936
OMIM: 600460;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0004960Absent pulmonary artery
3 HP:0000175Cleft palate
4 HP:0000204Cleft upper lip
5 HP:0001217Clubbing
6 HP:0001680Coarctation of aorta
7 HP:0000028Cryptorchidism
8 HP:0003819Death in childhood
9 HP:0001263Global developmental delay
10 HP:0001510Growth delay
11 HP:0000316Hypertelorism
12 HP:0008589Hypoplastic helices
13 HP:0000047Hypospadias
14 HP:0001249Intellectual disability
15 HP:0000369Low-set ears
16 HP:0000400Macrotia
17 HP:0000054Micropenis
18 HP:0001643Patent ductus arteriosus
19 HP:0000049Shawl scrotum
20 HP:0001171Split hand
21 HP:0001636Tetralogy of Fallot
22 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants