Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001507	HP:0001507	Growth abnormality	0	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0001507	Growth abnormality	0	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0001507	Growth abnormality	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0001507	Growth abnormality	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0001507	Growth abnormality	0	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0001507	Growth abnormality	0	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0001507	Growth abnormality	0	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0001507	Growth abnormality	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0001507	Growth abnormality	0	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0001507	Growth abnormality	0	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0001507	Growth abnormality	0	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0001507	Growth abnormality	0	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0001507	Growth abnormality	0	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0001507	Growth abnormality	0	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0001507	Growth abnormality	0	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0001507	Growth abnormality	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0001507	Growth abnormality	0	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0001507	Growth abnormality	0	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0001507	Growth abnormality	0	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0001507	Growth abnormality	0	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0001507	Growth abnormality	0	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0001507	Growth abnormality	0	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0001507	Growth abnormality	0	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0001507	Growth abnormality	0	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0001507	Growth abnormality	0	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0001507	Growth abnormality	0	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0001507	Growth abnormality	0	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0001507	Growth abnormality	0	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0001507	Growth abnormality	0	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0001507	Growth abnormality	0	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0001507	Growth abnormality	0	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0001507	Growth abnormality	0	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0001507	Growth abnormality	0	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0001507	Growth abnormality	0	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0001507	Growth abnormality	0	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0001507	Growth abnormality	0	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0001507	Growth abnormality	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0001507	Growth abnormality	0	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0001507	Growth abnormality	0	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0033795	Growth without growth hormone	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0100555	Asymmetric growth	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0004323	Abnormality of body weight	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0033794	Acral overgrowth	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0025521	Increased body fat percentage	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0000002	Abnormality of body height	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0001510	Growth delay	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0030853	Heterotaxy	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0041079	Decreased body fat percentage	1	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0033794	Acral overgrowth	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0004323	Abnormality of body weight	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0000002	Abnormality of body height	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0001510	Growth delay	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0025521	Increased body fat percentage	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0041079	Decreased body fat percentage	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0030853	Heterotaxy	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0100555	Asymmetric growth	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0033795	Growth without growth hormone	1	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0030853	Heterotaxy	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0041079	Decreased body fat percentage	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0100555	Asymmetric growth	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0033795	Growth without growth hormone	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0004323	Abnormality of body weight	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0033794	Acral overgrowth	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0000002	Abnormality of body height	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0025521	Increased body fat percentage	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0001510	Growth delay	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0025521	Increased body fat percentage	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0000002	Abnormality of body height	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0001510	Growth delay	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0030853	Heterotaxy	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0041079	Decreased body fat percentage	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0033795	Growth without growth hormone	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0100555	Asymmetric growth	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0004323	Abnormality of body weight	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0033794	Acral overgrowth	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0033794	Acral overgrowth	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0025521	Increased body fat percentage	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0001510	Growth delay	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0030853	Heterotaxy	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0041079	Decreased body fat percentage	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0004323	Abnormality of body weight	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0033795	Growth without growth hormone	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0100555	Asymmetric growth	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0025521	Increased body fat percentage	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0030853	Heterotaxy	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0041079	Decreased body fat percentage	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0100555	Asymmetric growth	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0033795	Growth without growth hormone	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0033794	Acral overgrowth	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0004323	Abnormality of body weight	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0033794	Acral overgrowth	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0004323	Abnormality of body weight	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0025521	Increased body fat percentage	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0000002	Abnormality of body height	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0001510	Growth delay	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0041079	Decreased body fat percentage	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0030853	Heterotaxy	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0100555	Asymmetric growth	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0033795	Growth without growth hormone	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0030853	Heterotaxy	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0041079	Decreased body fat percentage	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0033795	Growth without growth hormone	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0100555	Asymmetric growth	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0033794	Acral overgrowth	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0025521	Increased body fat percentage	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0000002	Abnormality of body height	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0001510	Growth delay	1	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0033794	Acral overgrowth	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0004323	Abnormality of body weight	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0025521	Increased body fat percentage	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0000002	Abnormality of body height	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0001510	Growth delay	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0030853	Heterotaxy	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0041079	Decreased body fat percentage	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0033795	Growth without growth hormone	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0100555	Asymmetric growth	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0041079	Decreased body fat percentage	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0030853	Heterotaxy	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0100555	Asymmetric growth	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0033795	Growth without growth hormone	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0033794	Acral overgrowth	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0004323	Abnormality of body weight	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0025521	Increased body fat percentage	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0000002	Abnormality of body height	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0001510	Growth delay	1	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0025521	Increased body fat percentage	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0000002	Abnormality of body height	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0001510	Growth delay	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0041079	Decreased body fat percentage	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0030853	Heterotaxy	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0100555	Asymmetric growth	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0033795	Growth without growth hormone	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0033794	Acral overgrowth	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0004323	Abnormality of body weight	1	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0041079	Decreased body fat percentage	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0030853	Heterotaxy	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0100555	Asymmetric growth	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0033795	Growth without growth hormone	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0033794	Acral overgrowth	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0004323	Abnormality of body weight	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0025521	Increased body fat percentage	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0000002	Abnormality of body height	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0001510	Growth delay	1	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0041079	Decreased body fat percentage	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0030853	Heterotaxy	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0100555	Asymmetric growth	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0033795	Growth without growth hormone	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0033794	Acral overgrowth	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0025521	Increased body fat percentage	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0001510	Growth delay	1	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0004323	Abnormality of body weight	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0033794	Acral overgrowth	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0000002	Abnormality of body height	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0001510	Growth delay	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0025521	Increased body fat percentage	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0041079	Decreased body fat percentage	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0030853	Heterotaxy	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0100555	Asymmetric growth	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0033795	Growth without growth hormone	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0004323	Abnormality of body weight	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0033794	Acral overgrowth	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0025521	Increased body fat percentage	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0000002	Abnormality of body height	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0001510	Growth delay	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0030853	Heterotaxy	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0041079	Decreased body fat percentage	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0033795	Growth without growth hormone	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0100555	Asymmetric growth	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0030853	Heterotaxy	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0041079	Decreased body fat percentage	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0033795	Growth without growth hormone	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0100555	Asymmetric growth	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0033794	Acral overgrowth	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0004323	Abnormality of body weight	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0025521	Increased body fat percentage	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0000002	Abnormality of body height	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0001510	Growth delay	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0001507	HP:0025521	Increased body fat percentage	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0000002	Abnormality of body height	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0001510	Growth delay	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0030853	Heterotaxy	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0041079	Decreased body fat percentage	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0033795	Growth without growth hormone	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0100555	Asymmetric growth	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0033794	Acral overgrowth	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0001507	HP:0100555	Asymmetric growth	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0033795	Growth without growth hormone	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0033794	Acral overgrowth	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0025521	Increased body fat percentage	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0000002	Abnormality of body height	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0001510	Growth delay	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0041079	Decreased body fat percentage	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0030853	Heterotaxy	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0001507	HP:0033794	Acral overgrowth	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0004323	Abnormality of body weight	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0025521	Increased body fat percentage	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0000002	Abnormality of body height	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0001510	Growth delay	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0041079	Decreased body fat percentage	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0030853	Heterotaxy	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0100555	Asymmetric growth	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0033795	Growth without growth hormone	1	LRP5 CL E G H	4041	144750	Worth disease	144750	C0432273	OMIM	1	1354	6697	603506
HP:0001507	HP:0033795	Growth without growth hormone	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0100555	Asymmetric growth	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0004323	Abnormality of body weight	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0033794	Acral overgrowth	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0025521	Increased body fat percentage	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0000002	Abnormality of body height	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0001510	Growth delay	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0030853	Heterotaxy	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0041079	Decreased body fat percentage	1	MGP CL E G H	4256	245150	Keutel syndrome	245150	C1855607	OMIM	1	129	7060	154870
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0000002	Abnormality of body height	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0001510	Growth delay	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0030853	Heterotaxy	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0100555	Asymmetric growth	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0033794	Acral overgrowth	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0033794	Acral overgrowth	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0000002	Abnormality of body height	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0001510	Growth delay	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0030853	Heterotaxy	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0100555	Asymmetric growth	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001507	HP:0100555	Asymmetric growth	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0033794	Acral overgrowth	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0000002	Abnormality of body height	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0001510	Growth delay	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0030853	Heterotaxy	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0001510	Growth delay	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0030853	Heterotaxy	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0100555	Asymmetric growth	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0033794	Acral overgrowth	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0000002	Abnormality of body height	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001507	HP:0033794	Acral overgrowth	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0000002	Abnormality of body height	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0001510	Growth delay	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0030853	Heterotaxy	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0100555	Asymmetric growth	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0100555	Asymmetric growth	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0033794	Acral overgrowth	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0000002	Abnormality of body height	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0001510	Growth delay	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0030853	Heterotaxy	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001507	HP:0030853	Heterotaxy	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0100555	Asymmetric growth	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0033794	Acral overgrowth	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0000002	Abnormality of body height	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0001510	Growth delay	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0001510	Growth delay	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0030853	Heterotaxy	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0001510	Growth delay	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0030853	Heterotaxy	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0001510	Growth delay	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0030853	Heterotaxy	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001507	HP:0030853	Heterotaxy	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0001510	Growth delay	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0001510	Growth delay	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0030853	Heterotaxy	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0001510	Growth delay	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0030853	Heterotaxy	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0030853	Heterotaxy	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0001510	Growth delay	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0001510	Growth delay	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0030853	Heterotaxy	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001507	HP:0033794	Acral overgrowth	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0004323	Abnormality of body weight	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0025521	Increased body fat percentage	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0000002	Abnormality of body height	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0001510	Growth delay	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0041079	Decreased body fat percentage	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0030853	Heterotaxy	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0100555	Asymmetric growth	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0033795	Growth without growth hormone	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001507	HP:0033795	Growth without growth hormone	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0100555	Asymmetric growth	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0004323	Abnormality of body weight	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0033794	Acral overgrowth	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0025521	Increased body fat percentage	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0000002	Abnormality of body height	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0001510	Growth delay	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0030853	Heterotaxy	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0041079	Decreased body fat percentage	1	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0001507	HP:0025521	Increased body fat percentage	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0000002	Abnormality of body height	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0001510	Growth delay	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0030853	Heterotaxy	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0041079	Decreased body fat percentage	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0033795	Growth without growth hormone	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0100555	Asymmetric growth	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0033794	Acral overgrowth	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	127	8966	605947
HP:0001507	HP:0033795	Growth without growth hormone	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0100555	Asymmetric growth	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0033794	Acral overgrowth	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0004323	Abnormality of body weight	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0025521	Increased body fat percentage	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0000002	Abnormality of body height	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0001510	Growth delay	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0030853	Heterotaxy	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0041079	Decreased body fat percentage	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0001507	HP:0033795	Growth without growth hormone	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0100555	Asymmetric growth	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0004323	Abnormality of body weight	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0033794	Acral overgrowth	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0000002	Abnormality of body height	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0001510	Growth delay	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0025521	Increased body fat percentage	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0030853	Heterotaxy	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0041079	Decreased body fat percentage	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0001507	HP:0025521	Increased body fat percentage	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0001510	Growth delay	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0030853	Heterotaxy	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0041079	Decreased body fat percentage	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0033795	Growth without growth hormone	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0100555	Asymmetric growth	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0033794	Acral overgrowth	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001507	HP:0030853	Heterotaxy	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0041079	Decreased body fat percentage	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0033795	Growth without growth hormone	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0100555	Asymmetric growth	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0004323	Abnormality of body weight	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0033794	Acral overgrowth	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0025521	Increased body fat percentage	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0000002	Abnormality of body height	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0001510	Growth delay	1	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0001507	HP:0008897	Postnatal growth retardation	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0000823	Delayed puberty	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0100556	Hemiatrophy	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0004322	Short stature	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0100559	Lower limb asymmetry	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0031853	Isomerism	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0045081	Abnormality of body mass index	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0001528	Hemihypertrophy	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0004324	Increased body weight	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0100560	Upper limb asymmetry	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0004325	Decreased body weight	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0000098	Tall stature	2	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0001507	HP:0100556	Hemiatrophy	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0001528	Hemihypertrophy	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0004322	Short stature	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0100559	Lower limb asymmetry	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0031853	Isomerism	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0045081	Abnormality of body mass index	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0004325	Decreased body weight	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0000098	Tall stature	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0004324	Increased body weight	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0100560	Upper limb asymmetry	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0001511	Intrauterine growth retardation	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0008897	Postnatal growth retardation	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0000823	Delayed puberty	2	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	556	644	313700
HP:0001507	HP:0100560	Upper limb asymmetry	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0004325	Decreased body weight	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0000098	Tall stature	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0004324	Increased body weight	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0000823	Delayed puberty	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0008897	Postnatal growth retardation	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0100556	Hemiatrophy	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0045081	Abnormality of body mass index	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0001528	Hemihypertrophy	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0004322	Short stature	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0100559	Lower limb asymmetry	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0031853	Isomerism	2	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	495	986	608348
HP:0001507	HP:0001528	Hemihypertrophy	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0004322	Short stature	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0100559	Lower limb asymmetry	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0031853	Isomerism	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0045081	Abnormality of body mass index	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0004324	Increased body weight	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0100560	Upper limb asymmetry	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0004325	Decreased body weight	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0000098	Tall stature	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0008897	Postnatal growth retardation	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0000823	Delayed puberty	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0100556	Hemiatrophy	2	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	547	987	248611
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0000098	Tall stature	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0100560	Upper limb asymmetry	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0031853	Isomerism	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0045081	Abnormality of body mass index	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0000823	Delayed puberty	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0004325	Decreased body weight	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0004324	Increased body weight	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0100556	Hemiatrophy	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0008897	Postnatal growth retardation	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0001528	Hemihypertrophy	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0004322	Short stature	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0100559	Lower limb asymmetry	2	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0001507	HP:0031853	Isomerism	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0045081	Abnormality of body mass index	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0100560	Upper limb asymmetry	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0004325	Decreased body weight	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0000098	Tall stature	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0004324	Increased body weight	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0000823	Delayed puberty	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0008897	Postnatal growth retardation	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0100556	Hemiatrophy	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0001528	Hemihypertrophy	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0100559	Lower limb asymmetry	2	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0001507	HP:0100556	Hemiatrophy	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0031853	Isomerism	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0045081	Abnormality of body mass index	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0001528	Hemihypertrophy	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0004322	Short stature	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0100559	Lower limb asymmetry	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0100560	Upper limb asymmetry	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0004325	Decreased body weight	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0000098	Tall stature	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0004324	Increased body weight	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0008897	Postnatal growth retardation	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0000823	Delayed puberty	2	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	651	2518	606272
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0004324	Increased body weight	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0100560	Upper limb asymmetry	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0004325	Decreased body weight	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0000098	Tall stature	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0008897	Postnatal growth retardation	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0000823	Delayed puberty	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0100556	Hemiatrophy	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0100559	Lower limb asymmetry	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0031853	Isomerism	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0045081	Abnormality of body mass index	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0001528	Hemihypertrophy	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0004322	Short stature	2	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	273	2600	613815
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0100556	Hemiatrophy	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0100559	Lower limb asymmetry	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0031853	Isomerism	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0045081	Abnormality of body mass index	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0001528	Hemihypertrophy	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0004322	Short stature	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0100560	Upper limb asymmetry	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0004325	Decreased body weight	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0000098	Tall stature	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0004324	Increased body weight	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0008897	Postnatal growth retardation	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0000823	Delayed puberty	2	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	582	2698	248610
HP:0001507	HP:0004325	Decreased body weight	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0000098	Tall stature	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0004324	Increased body weight	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0100560	Upper limb asymmetry	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0008897	Postnatal growth retardation	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0000823	Delayed puberty	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0100556	Hemiatrophy	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0001528	Hemihypertrophy	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0004322	Short stature	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0100559	Lower limb asymmetry	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0031853	Isomerism	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0045081	Abnormality of body mass index	2	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001507	HP:0001528	Hemihypertrophy	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0004322	Short stature	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0100559	Lower limb asymmetry	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0031853	Isomerism	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0045081	Abnormality of body mass index	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0004325	Decreased body weight	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0000098	Tall stature	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0004324	Increased body weight	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0100560	Upper limb asymmetry	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0008897	Postnatal growth retardation	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0000823	Delayed puberty	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0100556	Hemiatrophy	2	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0001507	HP:0004325	Decreased body weight	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0000098	Tall stature	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0004324	Increased body weight	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0008897	Postnatal growth retardation	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0000823	Delayed puberty	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0100556	Hemiatrophy	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0001528	Hemihypertrophy	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0100559	Lower limb asymmetry	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0045081	Abnormality of body mass index	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0004322	Short stature	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0031853	Isomerism	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0100560	Upper limb asymmetry	2	ENPP1 CL E G H	5167	208000	Arterial calcification of infancy	208000	C1859727	OMIM	1	438	3356	173335
HP:0001507	HP:0004325	Decreased body weight	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0000098	Tall stature	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0004324	Increased body weight	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0100560	Upper limb asymmetry	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0008897	Postnatal growth retardation	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0000823	Delayed puberty	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0100556	Hemiatrophy	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0001528	Hemihypertrophy	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0004322	Short stature	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0100559	Lower limb asymmetry	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0031853	Isomerism	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0045081	Abnormality of body mass index	2	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0001528	Hemihypertrophy	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0004322	Short stature	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0100559	Lower limb asymmetry	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0031853	Isomerism	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0045081	Abnormality of body mass index	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0100560	Upper limb asymmetry	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0000098	Tall stature	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0004324	Increased body weight	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0004325	Decreased body weight	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0000823	Delayed puberty	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0008897	Postnatal growth retardation	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0100556	Hemiatrophy	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0100556	Hemiatrophy	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0100559	Lower limb asymmetry	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0031853	Isomerism	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0045081	Abnormality of body mass index	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0001528	Hemihypertrophy	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0004322	Short stature	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0004324	Increased body weight	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0100560	Upper limb asymmetry	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0004325	Decreased body weight	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0000098	Tall stature	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0008897	Postnatal growth retardation	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0000823	Delayed puberty	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0001507	HP:0100560	Upper limb asymmetry	2	HGSNAT CL E G H	138050	252930	M