Human Phenotype Ontology

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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 musculoskeletal physiology (HP:0011843)

Parent Node:
Abnormality of skeletal maturation (HP:0000927)

..Starting node
..Accelerated skeletal maturation (HP:0005616)

Term ID:

5616

Name:

Accelerated skeletal maturation

Synonym:

Advanced bone age; Early bone maturation

Definition:

An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

Comments:

Reference:

HP:0005616

Genes and Diseases:

Child Nodes:

........

Accelerated bone age after puberty (HP:0002805)

........

Dysharmonic accelerated bone age (HP:0200001)

Sister Nodes:

Delayed skeletal maturation (HP:0002750)

Dysharmonic bone age (HP:0200000)

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:0005616	HP:0005616	Accelerated skeletal maturation	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional	254
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.	34
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	HP:0040283 - Occasional	7
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome	.	60
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR		62
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent	62
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040282 - Frequent	270
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	101
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.	5
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040283 - Occasional	3
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional	5
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional	18
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent	229
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional	23
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040281 - Very frequent	67
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.	94
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040281 - Very frequent	40
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	113
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040282 - Frequent	113
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	134
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent	53
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional	9
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040283 - Occasional	146
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040282 - Frequent	97
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0005616	HP:0005616	Accelerated skeletal maturation	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0005616	HP:0200001	Dysharmonic accelerated bone age	1	CL E G H
HP:0005616	HP:0002805	Accelerated bone age after puberty	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0005616	HP:0002805	Accelerated bone age after puberty	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171

Genes (68) :ABCC9 ACAN AGPAT2 AIP ALMS1 APC2 ARCN1 ASXL2 B3GAT3 B4GALT7 BSCL2 CANT1 CAV1 CAVIN1 CDKN1C CHST3 CSGALNACT1 CYP11B1 CYP19A1 DDOST DDX6 EED EZH2 FOS GLI3 GNAS GPC3 GPC4 GPR101 GPX4 H1-4 H19-ICR HSD11B1 IGF2 INPPL1 INSR KCNJ8 KCNQ1 KCNQ1OT1 KMT2A LEP LEPR LHCGR MC2R MEN1 MKRN3 NFIX NSD1 PDE4D PPARG PRKAR1A PRKG2 PTCH1 PTH1R RMRP RNF135 SETD2 SHANK3 SLC10A7 SLC26A2 SLC35D1 SMARCA2 SUZ12 TCF20 TET3 TRPS1 TSHR XYLT1

Diseases (71) :ORPHA:1517 OMIM:165800 ORPHA:528 OMIM:608594 ORPHA:99725 ORPHA:64 OMIM:203800 ORPHA:821 OMIM:617164 OMIM:617190 OMIM:245600 OMIM:130070 OMIM:269700 ORPHA:1425 OMIM:613327 OMIM:130650 OMIM:618870 OMIM:202010 ORPHA:90795 OMIM:139300 OMIM:614507 ORPHA:300536 OMIM:618653 OMIM:617561 ORPHA:3447 OMIM:277590 OMIM:175700 ORPHA:380 ORPHA:562 ORPHA:373 OMIM:312870 OMIM:300942 ORPHA:93317 OMIM:617537 OMIM:614662 ORPHA:3144 ORPHA:2297 ORPHA:319182 ORPHA:66628 ORPHA:179494 ORPHA:3000 OMIM:202200 OMIM:615346 ORPHA:420179 OMIM:602535 ORPHA:561 OMIM:614753 OMIM:117550 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:101800 OMIM:619636 ORPHA:77301 ORPHA:50945 OMIM:215045 ORPHA:175 ORPHA:137634 ORPHA:48652 OMIM:618363 ORPHA:93307 ORPHA:3051 OMIM:618786 OMIM:618430 OMIM:618798 OMIM:190350 OMIM:190351 ORPHA:424 OMIM:609152 ORPHA:370930

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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