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 body height (HP:0000002)

Parent Node:
Decreased body weight (HP:0004325)

Parent Node:
Tall stature (HP:0000098)

..Starting node
..Slender build (HP:0001533)

Term ID:

1533

Name:

Slender build

Synonym:

Asthenic habitus; Slender build; Thin body habitus; Thin build

Definition:

Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.

Comments:

Reference:

HP:0001533

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Disproportionate tall stature (HP:0001519)

Overgrowth (HP:0001548)

Proportionate tall stature (HP:0011407)

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:0001533	HP:0001533	Slender build	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0001533	HP:0001533	Slender build	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0001533	HP:0001533	Slender build	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0001533	HP:0001533	Slender build	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0001533	HP:0001533	Slender build	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0001533	HP:0001533	Slender build	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0001533	HP:0001533	Slender build	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0001533	HP:0001533	Slender build	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0001533	HP:0001533	Slender build	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications	.
HP:0001533	HP:0001533	Slender build	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent	655
HP:0001533	HP:0001533	Slender build	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0001533	HP:0001533	Slender build	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040282 - Frequent	30
HP:0001533	HP:0001533	Slender build	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0001533	HP:0001533	Slender build	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0001533	HP:0001533	Slender build	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0001533	HP:0001533	Slender build	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0001533	HP:0001533	Slender build	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0001533	HP:0001533	Slender build	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0001533	HP:0001533	Slender build	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0001533	HP:0001533	Slender build	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0001533	HP:0001533	Slender build	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040283 - Occasional	745
HP:0001533	HP:0001533	Slender build	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0001533	HP:0001533	Slender build	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0001533	HP:0001533	Slender build	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001533	HP:0001533	Slender build	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0001533	HP:0001533	Slender build	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0001533	HP:0001533	Slender build	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0001533	HP:0001533	Slender build	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0001533	HP:0001533	Slender build	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0001533	HP:0001533	Slender build	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0001533	HP:0001533	Slender build	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.	6
HP:0001533	HP:0001533	Slender build	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0001533	HP:0001533	Slender build	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0001533	HP:0001533	Slender build	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0001533	HP:0001533	Slender build	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0001533	HP:0001533	Slender build	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0001533	HP:0001533	Slender build	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.	66
HP:0001533	HP:0001533	Slender build	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0001533	HP:0001533	Slender build	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0001533	HP:0001533	Slender build	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310

Genes (30) :ACTA1 CIC COL6A1 COL6A2 COL6A3 DNA2 FARSB FBN2 GRIA3 HERC1 KANSL1 KBTBD13 KLHL41 MED12 MYPN NEB NONO NSDHL POLG POLR3A SARS1 STRADA TGFB1 TIMM50 TPM2 TPM3 TUBB4A TYMP UPF3B WRN

Diseases (31) :ORPHA:171439 OMIM:161800 OMIM:617600 OMIM:254090 ORPHA:352470 OMIM:615156 OMIM:613658 ORPHA:115 OMIM:300699 ORPHA:364028 ORPHA:457359 ORPHA:363958 ORPHA:363965 ORPHA:93932 ORPHA:399103 OMIM:256030 ORPHA:466791 OMIM:300967 ORPHA:251383 OMIM:300831 OMIM:603041 OMIM:613662 ORPHA:3455 OMIM:617709 OMIM:611087 ORPHA:1328 OMIM:131300 ORPHA:505216 OMIM:128101 OMIM:300676 ORPHA:902

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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