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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Lip Diseases (D008047)
Parent Node: Mouth Abnormalities (D009056)
..Starting node ..Cleft Lip (D002971)
Child Nodes:
........Ankyloblepharon filiforme adnatum cleft palate (C536373)
........Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
........Ausems Wittebol-Post Hennekam syndrome (C538272)
........Baraitser Rodeck Garner syndrome (C537906)
........Bixler Christian Gorlin syndrome (C537632)
........Blepharo-cheilo-dontic syndrome (C536188)
........Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
........Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 (C565603)
........Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 (C565070)
........Cleft Lip, Congenital Healed (C563468)
........Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
........Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation (C565173)
........Craniosynostosis Mental Retardation Clefting Syndrome (C565663)
........Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (C565062)
........Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
........Ectrodactyly-cleft lip/palate syndrome (C536189)
........Familial popliteal pterygium syndrome (C535891)
........Hay Wells syndrome recessive type (C535846)
........Hay-Wells syndrome (C535847)
........Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
........Holzgreve Wagner Rehder syndrome (C535327)
........Hypodontia Oligodontia with Orofacial Cleft (C566995)
........Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate (C563765)
........Kallmann Syndrome 2 with Cleft Lip or Palate (C563651)
........Kapur Toriello syndrome (C537008)
........Krause-Kivlin syndrome (C537617)
........Kuster syndrome (C538126)
........Larsen syndrome, dominant type (C537873)
........Martinez Monasterio Pinheiro syndrome (C536027)
........McPherson Clemens syndrome (C538160)
........Median cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
........Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
........Orofacial Cleft 1 (C566121)
........Orofacial Cleft 10 (C566605)
........Orofacial Cleft 11 (C567410)
........Orofacial Cleft 12 (C567548)
........OROFACIAL CLEFT 13 (OMIM:613857)
........Orofacial Cleft 2 (C566419)
........Orofacial Cleft 3 (C563448)
........Orofacial Cleft 4 (C564251)
........Orofacial Cleft 5 (C563843)
........OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (OMIM:608864)
........Orofacial Cleft 7 (C563464)
........Orofacial Cleft 8 (C565069)
........Orofacial Cleft 9 (C563675)
........Pilotto syndrome (C537400)
........Popliteal Pterygium Syndrome (C562509)
........Popliteal Pterygium Syndrome, Lethal Type (C564874)
........Rapp-Hodgkin syndrome (C535289)
........Rosselli-Gulienetti Syndrome (C563117)
........Sakoda Complex (C567055)
........Samson Viljoen syndrome (C537231)
........Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
........Thomas syndrome (C536514)
........Tooth Agenesis, Selective, With Orofacial Cleft (C566994)
........Van der Woude syndrome (C536528) 1
........Van der Woude syndrome 2 (C536529)
........Yim Ebbin syndrome (C536713)
Sister Nodes:
..Ankyloglossia (C562396)
..Calabro syndrome (C537960)
..Cleft Lip (D002971) 59
..Cleft Palate (D002972) 103
..Cleft Palate-Lateral Synechia Syndrome (C563047)
..Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..Fibromatosis, Gingival (D005351) 11
..Jagell Holmgren Hofer syndrome (C537364)
..Macrostomia (D008265) 3
..Microstomia (D008865) 4
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Velopharyngeal Insufficiency (D014681)
..Verloove-Vanhorick Brubakk syndrome (C536541)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2421
Name:	Cleft Lip
Definition:	Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Alternative IDs:
ParentIDs:	MESH:D008047\|MESH:D009056
TreeNumbers:	C07.465.409.225 \|C07.465.525.164 \|C07.650.525.164 \|C16.131.850.525.164
Synonyms:	Cleft Lips \|Harelip \|Harelips \|Lip, Cleft \|Lips, Cleft
Slim Mappings:	Congenital abnormality\|Mouth disease
Reference:	MedGen: D002971 MeSH: D002971 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants