Human Phenotype Ontology 
Grandparent Node:
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Abnormal jaw morphology (HP:0030791)help
Parent Node:
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Abnormal mandible morphology (HP:0000277)help
..Starting node
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Narrow jaw (HP:0012801)help
Term ID: 12801
Name: Narrow jaw
Synonym: Narrow jaw; Narrow lower face; Narrow lower jaw; Narrow mandible; Thin lower face; Thin lower jaw
Definition: Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).
Comments:
Reference: HP:0012801
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal mandible condylar process morphology (HP:3000077) help
..expandAbnormal mandible coronoid process morphology (HP:3000078) help
..expandAbnormal mandibular ramus morphology (HP:3000003) help
..expandAbnormality of the temporomandibular joint (HP:0010754) help
..expandAplasia/Hypoplasia of the mandible (HP:0009118) help
..expandAsymmetry of the mandible (HP:0009940) help
..expandBroad jaw (HP:0012802) help
..expandFibrous syngnathia (HP:0009754) help
..expandGiant cell granuloma of mandible (HP:0100955) help
..expandIncreased size of the mandible (HP:0040309) help
..expandJaw ankylosis (HP:0040263) help
..expandMandibular osteomyelitis (HP:0007626) help
..expandMandibular pain (HP:0200025) help
..expandMandibular prognathia (HP:0000303) help
..expandMidline defect of mandible (HP:0010753) help
..expandObtuse angle of mandible (HP:0005446) help
..expandRecurrent mandibular subluxations (HP:0005332) help
..expandRetrognathia (HP:0000278) help
..expandTrismus (HP:0000211) 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:0012801HP:0012801Narrow jaw0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0012801HP:0012801Narrow jaw0CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies.3
HP:0012801HP:0012801Narrow jaw0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0012801HP:0012801Narrow jaw0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0012801HP:0012801Narrow jaw0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0012801HP:0012801Narrow jaw0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0012801HP:0012801Narrow jaw0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0012801HP:0012801Narrow jaw0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0012801HP:0012801Narrow jaw0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0012801HP:0012801Narrow jaw0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0012801HP:0012801Narrow jaw0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0012801HP:0012801Narrow jaw0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0012801HP:0012801Narrow jaw0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2


Genes (13) :AGRN CCNK CHAT COL13A1 MYO9A MYOD1 NSD1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 VAMP1

Diseases (4) :ORPHA:98914 OMIM:618147 OMIM:618975 OMIM:117550
 

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