Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of bone mineral density (HP:0004348)

Parent Node:
Reduced bone mineral density (HP:0004349)

..Starting node
..Osteopenia (HP:0000938)

Term ID:

938

Name:

Osteopenia

Synonym:

Generalised osteopenia; Generalized osteopenia; Osteopaenia

Definition:

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

Comments:

Reference:

HP:0000938

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized bone demineralization (HP:0006462)

Osteomalacia (HP:0002749)

Osteoporosis (HP:0000939)

Patchy reduction of bone mineral density (HP:0010657)

Patchy variation in bone mineral density (HP:0010659)

Rickets (HP:0002748)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000938	HP:0000938	Osteopenia	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0000938	HP:0000938	Osteopenia	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0000938	HP:0000938	Osteopenia	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0000938	HP:0000938	Osteopenia	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0000938	HP:0000938	Osteopenia	0	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria	HP:0040282 - Frequent		5
HP:0000938	HP:0000938	Osteopenia	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0000938	HP:0000938	Osteopenia	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000938	HP:0000938	Osteopenia	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000938	HP:0000938	Osteopenia	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0000938	HP:0000938	Osteopenia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000938	HP:0000938	Osteopenia	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional		89
HP:0000938	HP:0000938	Osteopenia	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040282 - Frequent		37
HP:0000938	HP:0000938	Osteopenia	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare		2
HP:0000938	HP:0000938	Osteopenia	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.		304
HP:0000938	HP:0000938	Osteopenia	0	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia	HP:0040282 - Frequent		304
HP:0000938	HP:0000938	Osteopenia	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.		49
HP:0000938	HP:0000938	Osteopenia	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0000938	HP:0000938	Osteopenia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0000938	HP:0000938	Osteopenia	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0000938	HP:0000938	Osteopenia	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0000938	HP:0000938	Osteopenia	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0000938	HP:0000938	Osteopenia	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.		22
HP:0000938	HP:0000938	Osteopenia	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0000938	HP:0000938	Osteopenia	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0000938	HP:0000938	Osteopenia	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000938	HP:0000938	Osteopenia	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0000938	HP:0000938	Osteopenia	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000938	HP:0000938	Osteopenia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		16
HP:0000938	HP:0000938	Osteopenia	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0000938	HP:0000938	Osteopenia	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000938	HP:0000938	Osteopenia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0000938	HP:0000938	Osteopenia	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040281 - Very frequent		1
HP:0000938	HP:0000938	Osteopenia	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		169
HP:0000938	HP:0000938	Osteopenia	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0000938	HP:0000938	Osteopenia	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0000938	HP:0000938	Osteopenia	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0000938	HP:0000938	Osteopenia	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0000938	HP:0000938	Osteopenia	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0000938	HP:0000938	Osteopenia	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0000938	HP:0000938	Osteopenia	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		515
HP:0000938	HP:0000938	Osteopenia	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000938	HP:0000938	Osteopenia	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0000938	HP:0000938	Osteopenia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		38
HP:0000938	HP:0000938	Osteopenia	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0000938	HP:0000938	Osteopenia	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0000938	HP:0000938	Osteopenia	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		373
HP:0000938	HP:0000938	Osteopenia	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0000938	HP:0000938	Osteopenia	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0000938	HP:0000938	Osteopenia	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		660
HP:0000938	HP:0000938	Osteopenia	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		325
HP:0000938	HP:0000938	Osteopenia	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0000938	HP:0000938	Osteopenia	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0000938	HP:0000938	Osteopenia	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0000938	HP:0000938	Osteopenia	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.		4
HP:0000938	HP:0000938	Osteopenia	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000938	HP:0000938	Osteopenia	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0000938	HP:0000938	Osteopenia	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0000938	HP:0000938	Osteopenia	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0000938	HP:0000938	Osteopenia	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0000938	HP:0000938	Osteopenia	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0000938	HP:0000938	Osteopenia	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0000938	HP:0000938	Osteopenia	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0000938	HP:0000938	Osteopenia	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		27
HP:0000938	HP:0000938	Osteopenia	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000938	HP:0000938	Osteopenia	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0000938	HP:0000938	Osteopenia	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0000938	HP:0000938	Osteopenia	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0000938	HP:0000938	Osteopenia	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		5
HP:0000938	HP:0000938	Osteopenia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0000938	HP:0000938	Osteopenia	0	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia	HP:0040283 - Occasional		4
HP:0000938	HP:0000938	Osteopenia	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		4
HP:0000938	HP:0000938	Osteopenia	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0000938	HP:0000938	Osteopenia	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0000938	HP:0000938	Osteopenia	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		1
HP:0000938	HP:0000938	Osteopenia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		79
HP:0000938	HP:0000938	Osteopenia	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000938	HP:0000938	Osteopenia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0000938	HP:0000938	Osteopenia	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000938	HP:0000938	Osteopenia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000938	HP:0000938	Osteopenia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000938	HP:0000938	Osteopenia	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.		13
HP:0000938	HP:0000938	Osteopenia	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent		13
HP:0000938	HP:0000938	Osteopenia	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000938	HP:0000938	Osteopenia	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		114
HP:0000938	HP:0000938	Osteopenia	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000938	HP:0000938	Osteopenia	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000938	HP:0000938	Osteopenia	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0000938	HP:0000938	Osteopenia	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0000938	HP:0000938	Osteopenia	0	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia	HP:0040283 - Occasional		3
HP:0000938	HP:0000938	Osteopenia	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0000938	HP:0000938	Osteopenia	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		17
HP:0000938	HP:0000938	Osteopenia	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	HP:0040283 - Occasional		172
HP:0000938	HP:0000938	Osteopenia	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		172
HP:0000938	HP:0000938	Osteopenia	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0000938	HP:0000938	Osteopenia	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0000938	HP:0000938	Osteopenia	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0000938	HP:0000938	Osteopenia	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent		13
HP:0000938	HP:0000938	Osteopenia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia	HP:0040283 - Occasional		4
HP:0000938	HP:0000938	Osteopenia	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0000938	HP:0000938	Osteopenia	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		50
HP:0000938	HP:0000938	Osteopenia	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0000938	HP:0000938	Osteopenia	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0000938	HP:0000938	Osteopenia	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0000938	HP:0000938	Osteopenia	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0000938	HP:0000938	Osteopenia	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		51
HP:0000938	HP:0000938	Osteopenia	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	HP:0040283 - Occasional		51
HP:0000938	HP:0000938	Osteopenia	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0000938	HP:0000938	Osteopenia	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		56
HP:0000938	HP:0000938	Osteopenia	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		173
HP:0000938	HP:0000938	Osteopenia	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0000938	HP:0000938	Osteopenia	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0000938	HP:0000938	Osteopenia	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0000938	HP:0000938	Osteopenia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0000938	HP:0000938	Osteopenia	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		15
HP:0000938	HP:0000938	Osteopenia	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		92
HP:0000938	HP:0000938	Osteopenia	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0000938	HP:0000938	Osteopenia	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000938	HP:0000938	Osteopenia	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0000938	HP:0000938	Osteopenia	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0000938	HP:0000938	Osteopenia	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0000938	HP:0000938	Osteopenia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000938	HP:0000938	Osteopenia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000938	HP:0000938	Osteopenia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000938	HP:0000938	Osteopenia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000938	HP:0000938	Osteopenia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000938	HP:0000938	Osteopenia	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0000938	HP:0000938	Osteopenia	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0000938	HP:0000938	Osteopenia	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000938	HP:0000938	Osteopenia	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000938	HP:0000938	Osteopenia	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		21
HP:0000938	HP:0000938	Osteopenia	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0000938	HP:0000938	Osteopenia	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0000938	HP:0000938	Osteopenia	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000938	HP:0000938	Osteopenia	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000938	HP:0000938	Osteopenia	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000938	HP:0000938	Osteopenia	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.		55
HP:0000938	HP:0000938	Osteopenia	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0000938	HP:0000938	Osteopenia	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0000938	HP:0000938	Osteopenia	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		8
HP:0000938	HP:0000938	Osteopenia	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.		98
HP:0000938	HP:0000938	Osteopenia	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000938	HP:0000938	Osteopenia	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional		6
HP:0000938	HP:0000938	Osteopenia	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0000938	HP:0000938	Osteopenia	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.		8
HP:0000938	HP:0000938	Osteopenia	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000938	HP:0000938	Osteopenia	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0000938	HP:0000938	Osteopenia	0	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia	HP:0040283 - Occasional		9
HP:0000938	HP:0000938	Osteopenia	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0000938	HP:0000938	Osteopenia	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000938	HP:0000938	Osteopenia	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0000938	HP:0000938	Osteopenia	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0000938	HP:0000938	Osteopenia	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0000938	HP:0000938	Osteopenia	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0000938	HP:0000938	Osteopenia	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.		14
HP:0000938	HP:0000938	Osteopenia	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		14
HP:0000938	HP:0000938	Osteopenia	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0000938	HP:0000938	Osteopenia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0000938	HP:0000938	Osteopenia	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.		1
HP:0000938	HP:0000938	Osteopenia	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0000938	HP:0000938	Osteopenia	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0000938	HP:0000938	Osteopenia	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		43
HP:0000938	HP:0000938	Osteopenia	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0000938	HP:0000938	Osteopenia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0000938	HP:0000938	Osteopenia	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0000938	HP:0000938	Osteopenia	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0000938	HP:0000938	Osteopenia	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0000938	HP:0000938	Osteopenia	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0000938	HP:0000938	Osteopenia	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0000938	HP:0000938	Osteopenia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0000938	HP:0000938	Osteopenia	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000938	HP:0000938	Osteopenia	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0000938	HP:0000938	Osteopenia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0000938	HP:0000938	Osteopenia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0000938	HP:0000938	Osteopenia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0000938	HP:0000938	Osteopenia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0000938	HP:0000938	Osteopenia	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.		22
HP:0000938	HP:0000938	Osteopenia	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0000938	HP:0000938	Osteopenia	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		462
HP:0000938	HP:0000938	Osteopenia	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0000938	HP:0000938	Osteopenia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000938	HP:0000938	Osteopenia	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000938	HP:0000938	Osteopenia	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0000938	HP:0000938	Osteopenia	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000938	HP:0000938	Osteopenia	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0000938	HP:0000938	Osteopenia	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000938	HP:0000938	Osteopenia	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000938	HP:0000938	Osteopenia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000938	HP:0000938	Osteopenia	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000938	HP:0000938	Osteopenia	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0000938	HP:0000938	Osteopenia	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0000938	HP:0000938	Osteopenia	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0000938	HP:0000938	Osteopenia	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0000938	HP:0000938	Osteopenia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000938	HP:0000938	Osteopenia	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		25
HP:0000938	HP:0000938	Osteopenia	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0000938	HP:0000938	Osteopenia	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0000938	HP:0000938	Osteopenia	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0000938	HP:0000938	Osteopenia	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000938	HP:0000938	Osteopenia	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000938	HP:0000938	Osteopenia	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0000938	HP:0000938	Osteopenia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0000938	HP:0000938	Osteopenia	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0000938	HP:0000938	Osteopenia	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0000938	HP:0000938	Osteopenia	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0000938	HP:0000938	Osteopenia	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0000938	HP:0000938	Osteopenia	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000938	HP:0000938	Osteopenia	0	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type	.		53
HP:0000938	HP:0000938	Osteopenia	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		38
HP:0000938	HP:0000938	Osteopenia	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0000938	HP:0000938	Osteopenia	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0000938	HP:0000938	Osteopenia	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		5
HP:0000938	HP:0000938	Osteopenia	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0000938	HP:0000938	Osteopenia	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0000938	HP:0000938	Osteopenia	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0000938	HP:0000938	Osteopenia	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		41
HP:0000938	HP:0000938	Osteopenia	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0000938	HP:0000938	Osteopenia	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.		2
HP:0000938	HP:0000938	Osteopenia	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0000938	HP:0000938	Osteopenia	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0000938	HP:0000938	Osteopenia	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0000938	HP:0000938	Osteopenia	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0000938	HP:0000938	Osteopenia	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000938	HP:0000938	Osteopenia	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000938	HP:0000938	Osteopenia	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0000938	HP:0000938	Osteopenia	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0000938	HP:0000938	Osteopenia	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.		9
HP:0000938	HP:0000938	Osteopenia	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0000938	HP:0000938	Osteopenia	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000938	HP:0000938	Osteopenia	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent		105
HP:0000938	HP:0000938	Osteopenia	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.		45
HP:0000938	HP:0000938	Osteopenia	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0000938	HP:0000938	Osteopenia	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0000938	HP:0000938	Osteopenia	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0000938	HP:0000938	Osteopenia	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000938	HP:0000938	Osteopenia	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	HP:0040284 - Very rare		1129
HP:0000938	HP:0000938	Osteopenia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0000938	HP:0000938	Osteopenia	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0000938	HP:0000938	Osteopenia	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		36
HP:0000938	HP:0000938	Osteopenia	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0000938	HP:0000938	Osteopenia	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0000938	HP:0000938	Osteopenia	0	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia	HP:0040283 - Occasional		2
HP:0000938	HP:0000938	Osteopenia	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		9
HP:0000938	HP:0000938	Osteopenia	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0000938	HP:0000938	Osteopenia	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		54
HP:0000938	HP:0000938	Osteopenia	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		54
HP:0000938	HP:0000938	Osteopenia	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000938	HP:0000938	Osteopenia	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0000938	HP:0000938	Osteopenia	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0000938	HP:0000938	Osteopenia	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000938	HP:0000938	Osteopenia	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000938	HP:0000938	Osteopenia	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0000938	HP:0000938	Osteopenia	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0000938	HP:0000938	Osteopenia	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent		71
HP:0000938	HP:0000938	Osteopenia	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0000938	HP:0000938	Osteopenia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000938	HP:0000938	Osteopenia	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0000938	HP:0000938	Osteopenia	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0000938	HP:0000938	Osteopenia	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0000938	HP:0000938	Osteopenia	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000938	HP:0000938	Osteopenia	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000938	HP:0000938	Osteopenia	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000938	HP:0000938	Osteopenia	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0000938	HP:0000938	Osteopenia	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		26
HP:0000938	HP:0000938	Osteopenia	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0000938	HP:0000938	Osteopenia	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	HP:0040283 - Occasional		2
HP:0000938	HP:0000938	Osteopenia	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0000938	HP:0000938	Osteopenia	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0000938	HP:0000938	Osteopenia	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0000938	HP:0000938	Osteopenia	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	.
HP:0000938	HP:0000938	Osteopenia	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.		134
HP:0000938	HP:0000938	Osteopenia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0000938	HP:0000938	Osteopenia	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.		150
HP:0000938	HP:0000938	Osteopenia	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0000938	HP:0000938	Osteopenia	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0000938	HP:0000938	Osteopenia	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0000938	HP:0000938	Osteopenia	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0000938	HP:0000938	Osteopenia	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0000938	HP:0000938	Osteopenia	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0000938	HP:0000938	Osteopenia	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional		71
HP:0000938	HP:0000938	Osteopenia	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.		47
HP:0000938	HP:0000938	Osteopenia	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.		47
HP:0000938	HP:0000938	Osteopenia	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0000938	HP:0000938	Osteopenia	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0000938	HP:0000938	Osteopenia	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0000938	HP:0000938	Osteopenia	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		24
HP:0000938	HP:0000938	Osteopenia	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	HP:0040283 - Occasional		11
HP:0000938	HP:0000938	Osteopenia	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0000938	HP:0000938	Osteopenia	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0000938	HP:0000938	Osteopenia	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0000938	HP:0000938	Osteopenia	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0000938	HP:0000938	Osteopenia	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0000938	HP:0000938	Osteopenia	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000938	HP:0000938	Osteopenia	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0000938	HP:0000938	Osteopenia	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000938	HP:0000938	Osteopenia	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000938	HP:0000938	Osteopenia	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0000938	HP:0000938	Osteopenia	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0000938	HP:0000938	Osteopenia	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0000938	HP:0000938	Osteopenia	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		24
HP:0000938	HP:0000938	Osteopenia	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0000938	HP:0000938	Osteopenia	0	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0000938	HP:0000938	Osteopenia	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		5
HP:0000938	HP:0000938	Osteopenia	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0000938	HP:0000938	Osteopenia	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional		89
HP:0000938	HP:0000938	Osteopenia	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0000938	HP:0000938	Osteopenia	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.		110
HP:0000938	HP:0000938	Osteopenia	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.		2
HP:0000938	HP:0000938	Osteopenia	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0000938	HP:0000938	Osteopenia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0000938	HP:0000938	Osteopenia	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000938	HP:0000938	Osteopenia	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0000938	HP:0000938	Osteopenia	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0000938	HP:0000938	Osteopenia	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000938	HP:0000938	Osteopenia	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000938	HP:0000938	Osteopenia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0000938	HP:0000938	Osteopenia	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0000938	HP:0000938	Osteopenia	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		82
HP:0000938	HP:0000938	Osteopenia	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0000938	HP:0000938	Osteopenia	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0000938	HP:0000938	Osteopenia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000938	HP:0000938	Osteopenia	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent		166
HP:0000938	HP:0000938	Osteopenia	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0000938	HP:0000938	Osteopenia	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000938	HP:0000938	Osteopenia	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0000938	HP:0000938	Osteopenia	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000938	HP:0000938	Osteopenia	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0000938	HP:0000938	Osteopenia	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	HP:0003584 - Late onset	171
HP:0000938	HP:0000938	Osteopenia	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0000938	HP:0000938	Osteopenia	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0000938	HP:0000938	Osteopenia	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000938	HP:0000938	Osteopenia	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000938	HP:0000938	Osteopenia	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0000938	HP:0000938	Osteopenia	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0000938	HP:0000938	Osteopenia	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0000938	HP:0000938	Osteopenia	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0000938	HP:0000938	Osteopenia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000938	HP:0000938	Osteopenia	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		10
HP:0000938	HP:0000938	Osteopenia	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000938	HP:0000938	Osteopenia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0000938	HP:0000938	Osteopenia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000938	HP:0000938	Osteopenia	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent

Genes (292) :ADAMTS2 ADAMTSL2 ADCY10 AEBP1 AFF3 AIP ALDH18A1 ALG3 ANAPC1 ANO5 ANTXR2 ATP6V0A2 ATP7A ATP8B1 AVP B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BMP15 BNC1 BRAF BUD23 CARS1 CAVIN1 CCND1 CDC73 CDH23 CDKN1C CEACAM3 CEACAM6 CFTR CHD7 CHST3 CLCA4 CLIP2 CLPB COG1 COL1A1 COL5A1 COL5A2 COL7A1 COPB2 COX4I2 CREB3L1 CRIPT CRTAP CTC1 CTCF CYP19A1 CYP27A1 CYP3A4 DCAF17 DCHS1 DCTN4 DDOST DNAJC21 DNAJC30 DPM2 DUSP6 EDNRA EED EFL1 EIF4H ELANE ELN ERCC2 ERCC3 ESR1 FARSB FAT4 FBLN5 FBN1 FBN2 FGF17 FGF8 FGFR1 FGFR2 FKBP10 FKBP14 FKBP6 FLRT3 FOXA2 FSHR FUT8 GATA1 GBA1 GCLC GCM2 GEMIN4 GFI1 GLI2 GLIS3 GNAS GNPAT GNPTAB GNRH1 GNRHR GORAB GPAA1 GPR35 GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GZF1 HBB HECW2 HERC2 HESX1 HFE HMOX1 HNRNPH1 HNRNPK HPGD HRAS HS6ST1 HSD17B4 IARS2 IER3IP1 IFIH1 IFITM5 IFT140 IGF1 IL17RD IL1RN IPW IRX5 KCNJ1 KCNN4 KISS1 KISS1R KL KNSTRN KRAS LAMA5 LHX4 LIFR LIMK1 LMNA LRP5 MAFB MAGEL2 MAN2B1 MBTPS2 MDM4 MEN1 METTL27 MGAT2 MIA3 MIF MKRN3 MKRN3-AS1 MLXIPL MMP1 MMP14 MMP2 MPLKIP MRPS22 MST1 MTAP MTTP MTX2 NAA20 NAGA NCF1 NDN NF1 NHERF1 NOTCH2 NPAP1 NPR2 NR5A1 NRAS NSMF NUP107 OCA2 OTX2 P3H1 P4HB PAPPA2 PDE11A PDGFRB PIGT PIGU PIGY PIK3CD PLEKHM1 PLOD1 PLOD2 PLOD3 PMM2 POC1A POLE POLR3A POLR3H POU1F1 PRKACA PRKAR1A PRLR PROK2 PROKR2 PROP1 PSAP PSMC3IP PTH1R PWAR1 PWRN1 PYCR1 PYGL RECQL4 RFC2 RNF113A RNF125 RNU4ATAC RPL11 RSPRY1 SATB2 SBDS SCARB2 SEC23A SEC24D SEMA4D SERPINA1 SERPINH1 SGMS2 SH3PXD2B SIM1 SKI SLC10A1 SLC11A1 SLC12A1 SLC17A5 SLC26A9 SLC2A2 SLC34A1 SLC35A2 SLC37A4 SLC39A13 SLC39A8 SLC6A14 SLC7A7 SLC9A3 SMARCAL1 SMARCD2 SMPD1 SNORD115-1 SNORD116-1 SNRPN SOX3 SPIDR SPRY4 SRP54 STAT1 STAT3 STN1 STX1A STX3 TAC3 TACR3 TAF1 TAPT1 TARS1 TBL2 TCF12 TCF4 TCIRG1 TERT TGFB1 TMEM270 TMEM38B TMEM67 TNFRSF11B TOM1 TONSL TREM2 TRPS1 TRPV6 TTC26 UNC80 UROD UROS USP9X VPS37D WDR11 XYLT2 ZMPSTE24 ZNF699 ZSWIM7

Diseases (234) :ORPHA:1901 OMIM:225410 OMIM:231050 ORPHA:2197 ORPHA:536532 OMIM:618000 OMIM:619297 ORPHA:2965 ORPHA:90348 OMIM:616603 ORPHA:79321 ORPHA:221008 OMIM:166260 ORPHA:53697 OMIM:228600 ORPHA:2176 ORPHA:2834 OMIM:278250 ORPHA:198 OMIM:211600 OMIM:125700 OMIM:609465 ORPHA:536467 OMIM:245600 ORPHA:75496 OMIM:130070 ORPHA:904 ORPHA:243 OMIM:115150 ORPHA:33364 OMIM:613327 ORPHA:29073 ORPHA:99879 ORPHA:91347 OMIM:614732 ORPHA:586 ORPHA:432 ORPHA:486 ORPHA:263508 OMIM:611209 ORPHA:287 OMIM:130060 OMIM:166200 ORPHA:79408 OMIM:619884 OMIM:612714 OMIM:616229 OMIM:615789 OMIM:610682 OMIM:612199 ORPHA:363611 ORPHA:91 ORPHA:909 OMIM:619073 ORPHA:3464 ORPHA:314679 OMIM:601390 OMIM:614507 ORPHA:300536 ORPHA:811 ORPHA:329178 OMIM:615269 OMIM:617561 OMIM:194050 OMIM:615363 ORPHA:785 OMIM:613658 OMIM:615546 ORPHA:2462 OMIM:121050 OMIM:615270 OMIM:147950 ORPHA:313855 OMIM:610968 OMIM:614557 ORPHA:300179 OMIM:615271 ORPHA:95494 OMIM:618005 ORPHA:79277 ORPHA:77259 OMIM:617343 OMIM:617913 OMIM:610199 OMIM:219080 OMIM:222765 OMIM:252500 OMIM:231070 OMIM:617810 ORPHA:529665 ORPHA:171 OMIM:617662 ORPHA:231222 OMIM:617268 OMIM:176270 OMIM:620083 ORPHA:352665 ORPHA:453504 OMIM:259100 OMIM:163200 OMIM:614880 OMIM:261515 OMIM:616007 OMIM:614231 OMIM:182250 OMIM:610967 OMIM:266920 OMIM:608747 OMIM:615267 OMIM:612852 OMIM:611174 OMIM:241200 OMIM:614837 OMIM:617994 ORPHA:221139 OMIM:613328 OMIM:620076 ORPHA:3206 OMIM:212112 OMIM:248370 ORPHA:1662 OMIM:601813 ORPHA:2788 OMIM:166300 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:309288 ORPHA:309282 OMIM:301014 OMIM:618849 OMIM:212066 ORPHA:79329 OMIM:619269 ORPHA:371428 OMIM:259600 OMIM:112250 ORPHA:14 OMIM:619127 OMIM:619717 OMIM:609241 ORPHA:97685 OMIM:612287 ORPHA:955 OMIM:102500 OMIM:615923 OMIM:610915 OMIM:112240 OMIM:619489 OMIM:610475 OMIM:601812 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:616809 OMIM:618107 OMIM:225400 ORPHA:1900 OMIM:609220 OMIM:612394 OMIM:212065 ORPHA:79318 OMIM:614813 OMIM:618336 ORPHA:3455 OMIM:615830 OMIM:610489 ORPHA:397685 ORPHA:90695 OMIM:610539 OMIM:156400 OMIM:612940 OMIM:614438 ORPHA:369 ORPHA:221016 OMIM:616260 ORPHA:2636 OMIM:612562 ORPHA:457395 OMIM:616723 ORPHA:251028 ORPHA:576283 OMIM:607812 OMIM:616294 OMIM:613848 OMIM:126550 OMIM:249420 ORPHA:398079 OMIM:182212 OMIM:619256 OMIM:601678 OMIM:269920 ORPHA:2088 OMIM:613388 OMIM:612286 ORPHA:356961 ORPHA:79259 OMIM:612350 ORPHA:157965 OMIM:616721 ORPHA:468699 ORPHA:470 OMIM:242900 OMIM:617475 ORPHA:77293 OMIM:615266 ORPHA:391487 OMIM:614162 ORPHA:2314 OMIM:147060 OMIM:617341 OMIM:619445 OMIM:619446 OMIM:300966 OMIM:616897 OMIM:619718 OMIM:614742 OMIM:615066 ORPHA:140976 OMIM:602152 OMIM:239000 OMIM:271510 OMIM:618193 OMIM:190350 OMIM:190351 OMIM:618188 OMIM:619534 OMIM:616801 ORPHA:95159 OMIM:263700 ORPHA:480880 OMIM:605822 OMIM:619488

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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