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:
Abnormality of body height (HP:0000002)

Parent Node:
Tall stature (HP:0000098)

..Starting node
..Disproportionate tall stature (HP:0001519)

Term ID:

1519

Name:

Disproportionate tall stature

Synonym:

Dolichostenomelia; Marfanoid body habitus; Marfanoid habitus; Reduced upper-lower segment ratio

Definition:

A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.

Comments:

Reference:

HP:0001519

Genes and Diseases:

Child Nodes:

Sister Nodes:

Birth length greater than 97th percentile (HP:0003517)

Overgrowth (HP:0001548)

Proportionate tall stature (HP:0011407)

Slender build (HP:0001533)

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:0001519	HP:0001519	Disproportionate tall stature	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0001519	HP:0001519	Disproportionate tall stature	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0001519	HP:0001519	Disproportionate tall stature	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001519	HP:0001519	Disproportionate tall stature	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0001519	HP:0001519	Disproportionate tall stature	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0001519	HP:0001519	Disproportionate tall stature	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040281 - Very frequent	242
HP:0001519	HP:0001519	Disproportionate tall stature	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0001519	HP:0001519	Disproportionate tall stature	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0001519	HP:0001519	Disproportionate tall stature	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0001519	HP:0001519	Disproportionate tall stature	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0001519	HP:0001519	Disproportionate tall stature	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0001519	HP:0001519	Disproportionate tall stature	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0001519	HP:0001519	Disproportionate tall stature	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0001519	HP:0001519	Disproportionate tall stature	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0001519	HP:0001519	Disproportionate tall stature	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001519	HP:0001519	Disproportionate tall stature	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0001519	HP:0001519	Disproportionate tall stature	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040282 - Frequent	655
HP:0001519	HP:0001519	Disproportionate tall stature	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001519	HP:0001519	Disproportionate tall stature	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040284 - Very rare	13
HP:0001519	HP:0001519	Disproportionate tall stature	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0001519	HP:0001519	Disproportionate tall stature	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0001519	HP:0001519	Disproportionate tall stature	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0001519	HP:0001519	Disproportionate tall stature	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0001519	HP:0001519	Disproportionate tall stature	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0001519	HP:0001519	Disproportionate tall stature	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0001519	HP:0001519	Disproportionate tall stature	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0001519	HP:0001519	Disproportionate tall stature	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent	228
HP:0001519	HP:0001519	Disproportionate tall stature	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0001519	HP:0001519	Disproportionate tall stature	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0001519	HP:0001519	Disproportionate tall stature	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0001519	HP:0001519	Disproportionate tall stature	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001519	HP:0001519	Disproportionate tall stature	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0001519	HP:0001519	Disproportionate tall stature	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0001519	HP:0001519	Disproportionate tall stature	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0001519	HP:0001519	Disproportionate tall stature	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent	105
HP:0001519	HP:0001519	Disproportionate tall stature	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0001519	HP:0001519	Disproportionate tall stature	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0001519	HP:0001519	Disproportionate tall stature	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0001519	HP:0001519	Disproportionate tall stature	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0001519	HP:0001519	Disproportionate tall stature	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0001519	HP:0001519	Disproportionate tall stature	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0001519	HP:0001519	Disproportionate tall stature	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent	19
HP:0001519	HP:0001519	Disproportionate tall stature	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0001519	HP:0001519	Disproportionate tall stature	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0001519	HP:0001519	Disproportionate tall stature	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0001519	HP:0001519	Disproportionate tall stature	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent	33
HP:0001519	HP:0001519	Disproportionate tall stature	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent	10
HP:0001519	HP:0001519	Disproportionate tall stature	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.	10
HP:0001519	HP:0001519	Disproportionate tall stature	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397

Genes (40) :AKT1 ASXL3 ATP6V1A ATP6V1E1 CBS CHST14 COL1A2 COL2A1 CPLX1 CTBP1 DLG4 DSE FBN1 FBN2 FKBP14 HERC1 HPGD LARS2 LETM1 LOX MAN2B1 MED12 MFAP5 NELFA NKAP NSD2 PIGG PLOD1 POR PTEN RET SMAD2 SMAD3 SMS TGFBR1 TGFBR2 THSD4 UPF3B ZDHHC9 ZNF469

Diseases (40) :ORPHA:744 ORPHA:352577 OMIM:615485 OMIM:617403 OMIM:617402 ORPHA:394 OMIM:236200 ORPHA:2953 ORPHA:230851 OMIM:108300 ORPHA:280 OMIM:618793 OMIM:154700 OMIM:604308 ORPHA:115 OMIM:121050 ORPHA:300179 OMIM:617011 ORPHA:457359 OMIM:259100 OMIM:615300 OMIM:617168 ORPHA:309282 ORPHA:776 OMIM:309520 OMIM:616166 OMIM:301039 OMIM:225400 ORPHA:1900 ORPHA:95699 OMIM:162300 OMIM:619656 ORPHA:284984 OMIM:613795 ORPHA:3063 OMIM:609192 OMIM:610168 OMIM:619825 OMIM:300799 OMIM:229200

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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