Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Breathing dysregulation (HP:0005957)help
..Starting node
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Neonatal breathing dysregulation (HP:0002790)help
Term ID: 2790
Name: Neonatal breathing dysregulation
Synonym: Impaired breathing in newborn
Definition:
Comments:
Reference: HP:0002790
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased sensitivity to hypoxemia (HP:0005947) 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:0002790HP:0002790Neonatal breathing dysregulation0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0002790HP:0002790Neonatal breathing dysregulation0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0002790HP:0002790Neonatal breathing dysregulation0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0002790HP:0002790Neonatal breathing dysregulation0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0002790HP:0002790Neonatal breathing dysregulation0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45


Genes (5) :AHI1 CEP290 INPP5E RPGRIP1L TMEM216

Diseases (5) :OMIM:608629 OMIM:610188 OMIM:213300 OMIM:611560 OMIM:608091
 

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