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:
expandEctodermal Dysplasia (D004476)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandSyndactyly (D013576)
..Starting node
..expandZlotogora-Ogur syndrome (C536726)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAphalangia syndactyly microcephaly (C537787)
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandAurocephalosyndactyly (C566235)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBonneau Syndrome (C564875)
..expandBrachydactyly-Syndactyly Syndrome (C565193)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFilippi syndrome (C538152)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandGollop Coates syndrome (C537283)
..expandGreen Sandford Davison syndrome (C538221)
..expandKleiner Holmes syndrome (C536885)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLandy Donnai syndrome (C537266)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandOrofacial Cleft 7 (C563464)
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPavone Fiumara Rizzo syndrome (C536313)
..expandPfeiffer Rockelein syndrome (C537890)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPoland Syndrome (D011045)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolysyndactyly, Crossed (C566773)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSclerosteosis (C537525)
..expandScott Bryant Graham syndrome (C537528)
..expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..expandSTAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)
..expandSyndactyly Cenani Lenz type (C538150)
..expandSyndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..expandSyndactyly, type 2 (C538153)
..expandSyndactyly, type 3 (C538154)
..expandSyndactyly, Type I (C566096)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly, type v (C538155)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandSynpolydactyly 1 (C566094)
..expandTimothy syndrome (C536962)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandTrueb Burg Bottani syndrome (C536565)
..expandWinter Shortland Temple syndrome (C536735)
..expandZerres Rietschel Majewski syndrome (C536724)
..expandZlotogora-Ogur syndrome (C536726)
..expandZygodactyly 1 (C565223)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11876
Name:Zlotogora-Ogur syndrome
Definition:
Alternative IDs:OMIM:225060
ParentIDs:MESH:D002972|MESH:D004476|MESH:D008607|MESH:D013576
TreeNumbers:C05.116.099.370.894.819/C536726 |C05.500.460.185/C536726 |C05.660.207.540.460.185/C536726 |C05.660.585.800/C536726 |C05.660.906.819/C536726 |C07.320.440.185/C536726 |C07.465.525.185/C536726 |C07.650.500.460.185/C536726 |C07.650.525.185/C536726 |C10.597.606.643/C5
Synonyms:Autosomal recessive ectodermal dysplasia |Bustos Simosa Pinto Cisternas syndrome |Cleft lip/palate-ectodermal dysplasia syndrome |CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7, INCLUDED |CLPED1 |Ectodermal dysplasia, cleft lip and palate, mental ret
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C536726
MeSH: C536726
OMIM: 225060;

Genes: PVRL1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0010719Abnormality of hair texture
3 HP:0000598Abnormality of the ear
4 HP:0000288Abnormality of the philtrum
5 HP:0000674Anodontia
6 HP:0000175Cleft palate
7 HP:0000204Cleft upper lip
8 HP:0010554Cutaneous finger syndactyly
9 HP:0010621Cutaneous syndactyly of toes
10 HP:0000968Ectodermal dysplasia
11 HP:0000668Hypodontia
12 HP:0000272Malar flattening
13 HP:0000691Microdontia
14 HP:0002164Nail dysplasia
15 HP:0000972Palmoplantar hyperkeratosis
16 HP:0002296Progressive hypotrichosis
17 HP:0000535Sparse and thin eyebrow
18 HP:0000653Sparse eyelashes
19 HP:0000325Triangular face
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_203285.1(NECTIN1):c.554G>A (p.Trp185Ter)5818NECTIN1Pathogenic104894281RCV000009531; RCV000009532; NMedGen:C1833538; MedGen:C2931488,OMIM:22506011119548444119548444NM_203285.1:c.554G>ANP_976030.1:p.Trp185TerOMIM Allelic Variant:600644.0001C2931488 225060 Cleft lip/palate-ectodermal dysplasia syndrome; C1833538 Orofacial cleft 7