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:
Abnormality of bone mineral density (HP:0004348)

Parent Node:
Abnormality of the skull base (HP:0002693)

Parent Node:
Increased bone mineral density (HP:0011001)

..Starting node
..Sclerosis of skull base (HP:0002694)

Term ID:

2694

Name:

Sclerosis of skull base

Synonym:

Dense bone of skull base; HyperCalcification of skull base; HyperMineralization of skull base; Hyperossification of skull base; Hyperostosis of skull base; Marked sclerosis of skull base; Sclerosis of cranial base; Sclerosis of the skull base; Sclerotic skull base

Definition:

Increased bone density of the skull base without significant changes in bony contour.

Comments:

Reference:

HP:0002694

Genes and Diseases:

Child Nodes:

........

Progressive sclerosis of skull base (HP:0005477)

Sister Nodes:

Bone-in-a-bone appearance of carpal bones (HP:0004234)

Clavicular sclerosis (HP:0100923)

Cortical sclerosis (HP:0005652)

Craniofacial osteosclerosis (HP:0005464)

Generalized osteosclerosis (HP:0005789)

Increased bone density with cystic changes (HP:0005700)

Increased density of long bones (HP:0006392)

Increased skull ossification (HP:0004330)

Ivory epiphyses of the metacarpals (HP:0009191)

Metacarpal diaphyseal endosteal sclerosis (HP:0006174)

Osteopetrosis (HP:0011002)

Osteopoikilosis (HP:0010739)

Patchy osteosclerosis (HP:0005686)

Sclerosis of foot bone (HP:0100925)

Sclerosis of hand bone (HP:0004054)

Sclerotic scapulae (HP:0001474)

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:0002694	HP:0002694	Sclerosis of skull base	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002694	HP:0002694	Sclerosis of skull base	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0002694	HP:0002694	Sclerosis of skull base	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0002694	HP:0002694	Sclerosis of skull base	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002694	HP:0002694	Sclerosis of skull base	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0002694	HP:0002694	Sclerosis of skull base	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0002694	HP:0002694	Sclerosis of skull base	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002694	HP:0002694	Sclerosis of skull base	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0002694	HP:0002694	Sclerosis of skull base	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002694	HP:0002694	Sclerosis of skull base	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0002694	HP:0002694	Sclerosis of skull base	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0002694	HP:0002694	Sclerosis of skull base	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002694	HP:0002694	Sclerosis of skull base	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002694	HP:0002694	Sclerosis of skull base	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0002694	HP:0002694	Sclerosis of skull base	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002694	HP:0002694	Sclerosis of skull base	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0002694	HP:0002694	Sclerosis of skull base	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0002694	HP:0002694	Sclerosis of skull base	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0002694	HP:0005477	Progressive sclerosis of skull base	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6

Genes (16) :ACP5 AMER1 ANKH DLK1 FLNA LBR MAP3K7 MEG3 NOTCH3 PTDSS1 RTL1 SETBP1 SIK3 TGFB1 TMEM53 TNFRSF11A

Diseases (15) :OMIM:607944 OMIM:300373 OMIM:123000 ORPHA:96334 ORPHA:1826 OMIM:304120 OMIM:215140 OMIM:130720 OMIM:151050 OMIM:269150 ORPHA:798 OMIM:618162 OMIM:131300 OMIM:619727 OMIM:602080

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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