Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Mode of inheritance (HP:0000005)help
..Starting node
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Contiguous gene syndrome (HP:0001466)help
Term ID: 1466
Name: Contiguous gene syndrome
Synonym:
Definition: A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes
Comments:
Reference: HP:0001466
Genes and Diseases:
 
       Child Nodes:
........expandAutosomal dominant contiguous gene syndrome (HP:0001452) help

 Sister Nodes: 
..expandAutosomal dominant inheritance (HP:0000006) help
..expandAutosomal recessive inheritance (HP:0000007) help
..expandGenetic anticipation (HP:0003743) help
..expandMitochondrial inheritance (HP:0001427) help
..expandMultifactorial inheritance (HP:0001426) help
..expandobsolete Familial predisposition (HP:0001472) help
..expandobsolete Gonosomal inheritance (HP:0010985) help
..expandobsolete Heterogeneous (HP:0001425) help
..expandSomatic mutation (HP:0001428) help
..expandSporadic (HP:0003745) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001466HP:0001466Contiguous gene syndrome0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0001466HP:0001466Contiguous gene syndrome0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome.194
HP:0001466HP:0001466Contiguous gene syndrome0RPS14 CL E G H620810387OMIM:153550Chromosome 5q deletion syndrome
HP:0001466HP:0001466Contiguous gene syndrome0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome.177


Genes (4) :KANSL1 PAX6 RPS14 WT1

Diseases (3) :OMIM:610443 OMIM:194072 OMIM:153550
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.