Human Phenotype Ontology 
Grandparent Node:
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Meningocele (HP:0002435)help
Parent Node:
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Occipital meningocele (HP:0002436)help
..Starting node
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Occipital myelomeningocele (HP:0007271)help
Term ID: 7271
Name: Occipital myelomeningocele
Synonym:
Definition:
Comments:
Reference: HP:0007271
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007271HP:0007271Occipital myelomeningocele0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0007271HP:0007271Occipital myelomeningocele0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0007271HP:0007271Occipital myelomeningocele0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0007271HP:0007271Occipital myelomeningocele0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0007271HP:0007271Occipital myelomeningocele0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1HP:0040283 - Occasional111
HP:0007271HP:0007271Occipital myelomeningocele0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0007271HP:0007271Occipital myelomeningocele0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0007271HP:0007271Occipital myelomeningocele0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0007271HP:0007271Occipital myelomeningocele0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0007271HP:0007271Occipital myelomeningocele0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent


Genes (10) :ARVCF COMT GP1BB HIRA INPP5E JMJD1C RREB1 SEC24C TBX1 UFD1

Diseases (2) :ORPHA:567 OMIM:213300
 

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