Human Phenotype Ontology 
Grandparent Node:
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Abnormal pinna morphology (HP:0000377)help
Parent Node:
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Macrotia (HP:0000400)help
..Starting node
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Large fleshy ears (HP:0002265)help
Term ID: 2265
Name: Large fleshy ears
Synonym: Large fleshy ears
Definition:
Comments:
Reference: HP:0002265
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:0002265HP:0002265Large fleshy ears0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0002265HP:0002265Large fleshy ears0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0002265HP:0002265Large fleshy ears0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0002265HP:0002265Large fleshy ears0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0002265HP:0002265Large fleshy ears0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0002265HP:0002265Large fleshy ears0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0002265HP:0002265Large fleshy ears0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0002265HP:0002265Large fleshy ears0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0002265HP:0002265Large fleshy ears0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002265HP:0002265Large fleshy ears0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0002265HP:0002265Large fleshy ears0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0002265HP:0002265Large fleshy ears0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type.2
HP:0002265HP:0002265Large fleshy ears0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0002265HP:0002265Large fleshy ears0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0002265HP:0002265Large fleshy ears0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158


Genes (13) :ALG9 ATP6V1B2 COLEC10 COLEC11 KCNH1 KCNN3 MASP1 NARS1 PIGN TAPT1 TBL1XR1 TNPO2 TRAPPC9

Diseases (11) :ORPHA:79328 OMIM:263210 ORPHA:3473 ORPHA:293843 OMIM:619092 ORPHA:280633 OMIM:614080 OMIM:616897 OMIM:602342 OMIM:619556 ORPHA:352530
 

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