Human Phenotype Ontology 
Grandparent Node:
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Abnormal tongue morphology (HP:0030809)help
Parent Node:
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Aplasia/Hypoplasia of the tongue (HP:0010295)help
..Starting node
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Microglossia (HP:0000171)help
Term ID: 171
Name: Microglossia
Synonym: Abnormally small tongue; Decreased size of tongue; Hypoglossia; Hypoplasia of the tongue; Hypoplastic tongue; Lingual hypoplasia; Rudimentary tongue; Small tongue; Underdevelopment of the tongue
Definition: Decreased length and width of the tongue.
Comments:
Reference: HP:0000171
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAglossia (HP:0012730) 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:0000171HP:0000171Microglossia0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000171HP:0000171Microglossia0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000171HP:0000171Microglossia0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome.159
HP:0000171HP:0000171Microglossia0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040282 - Frequent14
HP:0000171HP:0000171Microglossia0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0000171HP:0000171Microglossia0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000171HP:0000171Microglossia0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000171HP:0000171Microglossia0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0000171HP:0000171Microglossia0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 9.11
HP:0000171HP:0000171Microglossia0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0000171HP:0000171Microglossia0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactylyHP:0040283 - Occasional101
HP:0000171HP:0000171Microglossia0OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent41
HP:0000171HP:0000171Microglossia0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0000171HP:0000171Microglossia0PRRX1 CL E G H53969142ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent4
HP:0000171HP:0000171Microglossia0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4
HP:0000171HP:0000171Microglossia0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000171HP:0000171Microglossia0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 2.68
HP:0000171HP:0000171Microglossia0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0000171HP:0000171Microglossia0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0000171HP:0000171Microglossia0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78


Genes (17) :BMP4 DHCR7 ECM1 EDN1 GLI3 GNAI3 LMNB2 MYMK NEK1 OTX2 PLCB4 PRRX1 PTDSS1 RBBP8 SMO TBX15 TRIM37

Diseases (17) :OMIM:607932 ORPHA:818 OMIM:270400 ORPHA:530 ORPHA:137888 ORPHA:672 OMIM:146510 OMIM:616540 OMIM:254940 OMIM:263520 ORPHA:990 OMIM:202650 OMIM:151050 OMIM:606744 OMIM:241800 OMIM:260660 OMIM:253250
 

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