Human Phenotype Ontology 
Grandparent Node:
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Abnormal epiphyseal ossification (HP:0010656)help
Grandparent Node:
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Abnormal epiphysis morphology (HP:0005930)help
Parent Node:
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Abnormal ossification involving the femoral head and neck (HP:0009107)help
Parent Node:
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Abnormality of the epiphysis of the femoral head (HP:0010574)help
Parent Node:
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Delayed epiphyseal ossification (HP:0002663)help
..Starting node
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Delayed proximal femoral epiphyseal ossification (HP:0008828)help
Term ID: 8828
Name: Delayed proximal femoral epiphyseal ossification
Synonym: Delayed ossification of the proximal femoral epiphysis; Delayed ossification proximal femoral epiphyses
Definition: Developmental delay of ossification of the proximal epiphysis of the femur.
Comments:
Reference: HP:0008828
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDelayed phalangeal epiphyseal ossification (HP:0006016) help
..expandDelayed upper limb epiphyseal ossification (HP:0003840) 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:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040282 - Frequent284
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent121
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent11
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent130
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 5HP:0040281 - Very frequent32
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent59
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent155
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent92
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0008828HP:0008828Delayed proximal femoral epiphyseal ossification0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040283 - Occasional97


Genes (17) :B3GALT6 COL2A1 DUOX2 DUOXA2 HESX1 IYD LHX3 LHX4 MATN3 POU1F1 PROP1 RNU4ATAC SLC5A5 TG TPO TSHB TSHR

Diseases (8) :OMIM:271640 ORPHA:93296 ORPHA:95716 ORPHA:226307 ORPHA:93311 ORPHA:353298 ORPHA:90674 ORPHA:90673
 

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