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:
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Craniosynostoses (D003398)
Parent Node:
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Eye Abnormalities (D005124)
..Starting node
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Craniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)

       Child Nodes:



 Sister Nodes: 
..expandAblepharon macrostomia syndrome (C535557)
..expandAniridia (D015783) Child10
..expandAnkyloblepharon filiforme adnatum cleft palate (C536373)
..expandAnophthalmos (D000853) Child8
..expandAnterior segment mesenchymal dysgenesis (C537775)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandAxenfeld-Rieger syndrome (C535679) Child3
..expandBlepharophimosis (D016569) Child17
..expandBlue diaper syndrome (C536239)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandChemke Oliver Mallek syndrome (C535922)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCODAS syndrome (C536434)
..expandCole Carpenter syndrome (C535963)
..expandColoboma (D003103) Child43
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandEctopia Lentis (D004479) Child13
..expandFACES syndrome (C536384)
..expandFoveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..expandFraser Syndrome (D058497)
..expandFronto-facio-nasal dysplasia (C538063)
..expandFrontoocular Syndrome (C565340)
..expandGoniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..expandHay-Wells syndrome (C535847)
..expandHydrophthalmos (D006871)
..expandIridogoniodysgenesis and skeletal anomalies (C535534)
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert Syndrome 9 (C567364)
..expandKapur Toriello syndrome (C537008)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandMacrophthalmia, Colobomatous, with Microcornea (C566533)
..expandMaxillofacial Dysostosis (C563599)
..expandMesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrophthalmos (D008850) Child57
..expandMOMES Syndrome (C564660)
..expandNephrotic syndrome ocular anomalies (C536403)
..expandNephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..expandOculoauricular Syndrome (C567416)
..expandOculoauriculofrontonasal syndrome (C537865)
..expandOculocerebrocutaneous syndrome (C538088)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculomaxillofacial dysostosis (C537736)
..expandOculopalatocerebral Syndrome (C564935)
..expandOculopalatoskeletal syndrome (C537738)
..expandOculorenocerebellar syndrome (C537739)
..expandPena Shokeir syndrome Type 2 (C536646)
..expandPersistent Hyperplastic Primary Vitreous (D054514)
..expandPersistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..expandPeters anomaly (C537884)
..expandPHACE association (C537892)
..expandPierson syndrome (C537185)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandPrepapillary Vascular Loops (C563287)
..expandPupil, Egg-Shaped (C566731)
..expandPupillary Membrane, Persistence Of (C562700)
..expandRetinal Dysplasia (D015792) Child2
..expandRieger syndrome 2 (C535680)
..expandRozin Hertz Goodman syndrome (C535876)
..expandTorsion dystonia with onset in infancy (C536969)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2846
Name:Craniosynostosis with Ocular Abnormalities and Hallucal Defects
Definition:
Alternative IDs:
ParentIDs:MESH:D003398|MESH:D005124
TreeNumbers:C05.116.099.370.894.232/C564263 |C05.660.207.240/C564263 |C05.660.207.707.249/C564263 |C05.660.906.364/C564263 |C11.250/C564263 |C16.131.384/C564263 |C16.131.621.207.240/C564263 |C16.131.621.207.707.249/C564263 |C16.131.621.906.364/C564263
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Musculoskeletal disease
Reference: MedGen: C564263
MeSH: C564263
OMIM: 608279;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0012386Absent hallux
3 HP:0010760Absent toe
4 HP:0000646Amblyopia
5 HP:0000518Cataract
6 HP:0000444Convex nasal ridge
7 HP:0001363Craniosynostosis
8 HP:0000268Dolichocephaly
9 HP:0002007Frontal bossing
10 HP:0001263Global developmental delay
11 HP:0001840Metatarsus adductus
12 HP:0000482Microcornea
13 HP:0000768Pectus carinatum
14 HP:0011220Prominent forehead
15 HP:0000508Ptosis
Disease Causing ClinVar Variants