Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal skull morphology (HP:0000929)

Parent Node:
Abnormal bone ossification (HP:0011849)

Parent Node:
Abnormality of skull ossification (HP:0002703)

..Starting node
..Decreased skull ossification (HP:0004331)

Term ID:

4331

Name:

Decreased skull ossification

Synonym:

Decreased bone formation of skull; Decreased calcification of skull; Decreased mineralization of skull; Deficient skull ossification; Hypoossification of skull; Ossification defect of skull; Poorly mineralized skull; Poorly ossified skull; Poorly ossified skull bones

Definition:

A reduction in the magnitude or amount of ossification of the skull.

Comments:

Reference:

HP:0004331

Genes and Diseases:

Child Nodes:

........

Decreased cranial base ossification (HP:0005451)

........

Decreased calvarial ossification (HP:0005474)

................... HP:0005623 Absent ossification of calvaria

Sister Nodes:

Increased skull ossification (HP:0004330)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004331	HP:0004331	Decreased skull ossification	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0004331	HP:0004331	Decreased skull ossification	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0004331	HP:0004331	Decreased skull ossification	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	132
HP:0004331	HP:0004331	Decreased skull ossification	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0004331	HP:0004331	Decreased skull ossification	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0004331	HP:0004331	Decreased skull ossification	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0004331	HP:0004331	Decreased skull ossification	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0004331	HP:0004331	Decreased skull ossification	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0004331	HP:0004331	Decreased skull ossification	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0004331	HP:0004331	Decreased skull ossification	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0004331	HP:0004331	Decreased skull ossification	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0004331	HP:0004331	Decreased skull ossification	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0004331	HP:0004331	Decreased skull ossification	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	102
HP:0004331	HP:0004331	Decreased skull ossification	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0004331	HP:0004331	Decreased skull ossification	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	HP:0040283 - Occasional	8
HP:0004331	HP:0004331	Decreased skull ossification	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0004331	HP:0004331	Decreased skull ossification	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0004331	HP:0004331	Decreased skull ossification	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0004331	HP:0004331	Decreased skull ossification	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0004331	HP:0004331	Decreased skull ossification	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0004331	HP:0004331	Decreased skull ossification	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0004331	HP:0004331	Decreased skull ossification	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0004331	HP:0004331	Decreased skull ossification	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0004331	HP:0004331	Decreased skull ossification	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040282 - Frequent	70
HP:0004331	HP:0004331	Decreased skull ossification	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0004331	HP:0004331	Decreased skull ossification	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040283 - Occasional	97
HP:0004331	HP:0004331	Decreased skull ossification	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent	138
HP:0004331	HP:0004331	Decreased skull ossification	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0004331	HP:0004331	Decreased skull ossification	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	2
HP:0004331	HP:0004331	Decreased skull ossification	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0004331	HP:0004331	Decreased skull ossification	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent	90
HP:0004331	HP:0004331	Decreased skull ossification	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0004331	HP:0004331	Decreased skull ossification	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040283 - Occasional	36
HP:0004331	HP:0004331	Decreased skull ossification	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0004331	HP:0004331	Decreased skull ossification	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0004331	HP:0004331	Decreased skull ossification	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0004331	HP:0004331	Decreased skull ossification	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0004331	HP:0004331	Decreased skull ossification	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040283 - Occasional	23
HP:0004331	HP:0004331	Decreased skull ossification	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0004331	HP:0004331	Decreased skull ossification	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0004331	HP:0004331	Decreased skull ossification	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0004331	HP:0004331	Decreased skull ossification	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0004331	HP:0004331	Decreased skull ossification	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0004331	HP:0004331	Decreased skull ossification	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0004331	HP:0005474	Decreased calvarial ossification	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0004331	HP:0005474	Decreased calvarial ossification	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0004331	HP:0005474	Decreased calvarial ossification	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0004331	HP:0005474	Decreased calvarial ossification	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0004331	HP:0005474	Decreased calvarial ossification	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0004331	HP:0005451	Decreased cranial base ossification	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0004331	HP:0005474	Decreased calvarial ossification	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0004331	HP:0005474	Decreased calvarial ossification	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0004331	HP:0005474	Decreased calvarial ossification	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0004331	HP:0005474	Decreased calvarial ossification	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0004331	HP:0005474	Decreased calvarial ossification	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0004331	HP:0005474	Decreased calvarial ossification	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0004331	HP:0005474	Decreased calvarial ossification	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0004331	HP:0005474	Decreased calvarial ossification	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0004331	HP:0005474	Decreased calvarial ossification	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0004331	HP:0005474	Decreased calvarial ossification	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0004331	HP:0005474	Decreased calvarial ossification	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0004331	HP:0005474	Decreased calvarial ossification	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0004331	HP:0005623	Absent ossification of calvaria	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0004331	HP:0005623	Absent ossification of calvaria	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243

Genes (37) :ALG9 ALPL ALX4 ANTXR1 BMPER COL1A1 COL1A2 COL2A1 CREB3L1 CRTAP EXT2 FAM111A FGFR2 FIG4 HDAC6 IFT43 INTU LAMA5 LBR LMNA MPL NOTCH2 P3H1 PHF21A PPIB RUNX2 SEC23A SLC25A19 SLC25A24 TAPT1 TBCE THPO TRIP11 TXNDC15 VAC14 WNT7A ZMPSTE24

Diseases (37) :OMIM:263210 OMIM:241500 ORPHA:52022 ORPHA:2067 OMIM:608022 OMIM:166210 OMIM:259420 OMIM:151210 OMIM:616229 OMIM:610682 ORPHA:93325 OMIM:602361 ORPHA:313855 OMIM:216340 ORPHA:3472 OMIM:300863 OMIM:617866 OMIM:617925 OMIM:620076 OMIM:215140 ORPHA:1426 ORPHA:1662 ORPHA:3319 ORPHA:955 OMIM:610915 OMIM:259440 ORPHA:1452 ORPHA:50814 ORPHA:99742 ORPHA:2963 OMIM:616897 ORPHA:93324 OMIM:244460 OMIM:200600 OMIM:619879 OMIM:276820 OMIM:275210

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

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