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 the endocrine system (HP:0000818)

Parent Node:
Abnormality of the parathyroid gland (HP:0000828)

..Starting node
..Abnormality of the parathyroid physiology (HP:0011767)

Term ID:

11767

Name:

Abnormality of the parathyroid physiology

Synonym:

Parathyroid dysfunction; Parathyroid issue

Definition:

A functional abnormality of the parathyroid gland.

Comments:

Reference:

HP:0011767

Genes and Diseases:

Child Nodes:

........

Hypoparathyroidism (HP:0000829)

................... HP:0008198 Congenital hypoparathyroidism
................... HP:0011771 Autoimmune hypoparathyroidism

........

Hyperparathyroidism (HP:0000843)

................... HP:0000867 Secondary hyperparathyroidism
................... HP:0008200 Primary hyperparathyroidism
................... HP:0011770 Tertiary hyperparathyroidism

........

Pseudohypoparathyroidism (HP:0000852)

Sister Nodes:

Abnormality of the parathyroid morphology (HP:0011766)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1		92
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III		6
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I		272
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1		169
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked		678
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome		33
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4		51
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM		101
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB		1
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome		121
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma		462
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome		274
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB		86
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets		104
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0011767	HP:0011767	Abnormality of the parathyroid physiology	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma		7
HP:0011767	HP:0000843	Hyperparathyroidism	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0011767	HP:0000829	Hypoparathyroidism	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0011767	HP:0000829	Hypoparathyroidism	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0011767	HP:0000843	Hyperparathyroidism	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III		6
HP:0011767	HP:0000843	Hyperparathyroidism	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011767	HP:0000829	Hypoparathyroidism	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0011767	HP:0000829	Hypoparathyroidism	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0011767	HP:0000843	Hyperparathyroidism	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0011767	HP:0000843	Hyperparathyroidism	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0011767	HP:0000843	Hyperparathyroidism	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1		169
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma	.	169
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0011767	HP:0000843	Hyperparathyroidism	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011767	HP:0000829	Hypoparathyroidism	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011767	HP:0000843	Hyperparathyroidism	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0011767	HP:0000829	Hypoparathyroidism	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0011767	HP:0000829	Hypoparathyroidism	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0011767	HP:0000829	Hypoparathyroidism	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000843	Hyperparathyroidism	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0011767	HP:0000843	Hyperparathyroidism	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0011767	HP:0000843	Hyperparathyroidism	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0011767	HP:0000829	Hypoparathyroidism	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011767	HP:0000829	Hypoparathyroidism	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011767	HP:0000829	Hypoparathyroidism	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011767	HP:0000829	Hypoparathyroidism	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011767	HP:0000829	Hypoparathyroidism	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0011767	HP:0000829	Hypoparathyroidism	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0011767	HP:0000843	Hyperparathyroidism	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	33
HP:0011767	HP:0000829	Hypoparathyroidism	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0011767	HP:0000829	Hypoparathyroidism	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040280 - Obligate	83
HP:0011767	HP:0000843	Hyperparathyroidism	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0011767	HP:0000829	Hypoparathyroidism	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0011767	HP:0000843	Hyperparathyroidism	1	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4		51
HP:0011767	HP:0000843	Hyperparathyroidism	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0011767	HP:0000843	Hyperparathyroidism	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011767	HP:0000843	Hyperparathyroidism	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040280 - Obligate	101
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040280 - Obligate	101
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040280 - Obligate	101
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.	101
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0011767	HP:0000829	Hypoparathyroidism	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0011767	HP:0000829	Hypoparathyroidism	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0011767	HP:0000829	Hypoparathyroidism	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0011767	HP:0000829	Hypoparathyroidism	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040284 - Very rare	580
HP:0011767	HP:0000829	Hypoparathyroidism	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0011767	HP:0000829	Hypoparathyroidism	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0011767	HP:0000829	Hypoparathyroidism	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0011767	HP:0000829	Hypoparathyroidism	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0011767	HP:0000829	Hypoparathyroidism	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0011767	HP:0000843	Hyperparathyroidism	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	121
HP:0011767	HP:0000829	Hypoparathyroidism	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0011767	HP:0000843	Hyperparathyroidism	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0011767	HP:0000843	Hyperparathyroidism	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma		462
HP:0011767	HP:0000843	Hyperparathyroidism	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0011767	HP:0000829	Hypoparathyroidism	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0011767	HP:0000829	Hypoparathyroidism	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0011767	HP:0000843	Hyperparathyroidism	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040280 - Obligate	113
HP:0011767	HP:0000829	Hypoparathyroidism	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0011767	HP:0000843	Hyperparathyroidism	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040280 - Obligate	134
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0011767	HP:0000829	Hypoparathyroidism	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0011767	HP:0000829	Hypoparathyroidism	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0011767	HP:0000843	Hyperparathyroidism	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011767	HP:0000829	Hypoparathyroidism	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0011767	HP:0000829	Hypoparathyroidism	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0011767	HP:0000843	Hyperparathyroidism	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	HP:0040283 - Occasional	75
HP:0011767	HP:0000843	Hyperparathyroidism	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	274
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040280 - Obligate	86
HP:0011767	HP:0000852	Pseudohypoparathyroidism	1	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0011767	HP:0000829	Hypoparathyroidism	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0011767	HP:0000829	Hypoparathyroidism	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0011767	HP:0000829	Hypoparathyroidism	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0011767	HP:0000829	Hypoparathyroidism	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0011767	HP:0000829	Hypoparathyroidism	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0011767	HP:0000829	Hypoparathyroidism	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0011767	HP:0000829	Hypoparathyroidism	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0011767	HP:0000829	Hypoparathyroidism	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0011767	HP:0000829	Hypoparathyroidism	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0011767	HP:0000843	Hyperparathyroidism	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent	104
HP:0011767	HP:0000843	Hyperparathyroidism	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0011767	HP:0000843	Hyperparathyroidism	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma		7
HP:0011767	HP:0011771	Autoimmune hypoparathyroidism	2	CL E G H
HP:0011767	HP:0011770	Tertiary hyperparathyroidism	2	CL E G H
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011767	HP:0000867	Secondary hyperparathyroidism	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1	.	169
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040280 - Obligate	169
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040280 - Obligate	169
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	2
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	102
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	1
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0011767	HP:0000867	Secondary hyperparathyroidism	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0011767	HP:0000867	Secondary hyperparathyroidism	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0011767	HP:0000867	Secondary hyperparathyroidism	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0011767	HP:0008198	Congenital hypoparathyroidism	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0011767	HP:0008198	Congenital hypoparathyroidism	2	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040280 - Obligate	51
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	.	51
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.	16
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	462
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	462
HP:0011767	HP:0008198	Congenital hypoparathyroidism	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040281 - Very frequent	52
HP:0011767	HP:0008198	Congenital hypoparathyroidism	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0011767	HP:0008198	Congenital hypoparathyroidism	2	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0011767	HP:0008198	Congenital hypoparathyroidism	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0011767	HP:0000867	Secondary hyperparathyroidism	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0011767	HP:0008200	Primary hyperparathyroidism	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	7

Genes (76) :ACTG2 AIRE AP2S1 ARMC5 ARVCF ATP7B CA2 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 CLDN10 COL4A5 COMT COX1 COX2 COX3 CYP27B1 CYP2R1 DGCR2 DGCR6 DGCR8 ESS2 FAM111A FOXI1 GATA3 GCM2 GNA11 GNAS GNAS-AS1 GP1BB HADHA HADHB HBB HIRA IRX5 JMJD1C KCNJ10 LIG4 MEN1 ND1 ND4 ND5 ND6 NKX2-1 NSUN2 OCRL PDE4D PIGT PLEKHM1 PRKAR1A PRMT7 PTH PTH1R RET RREB1 SEC24C SLC12A1 SLC26A4 STX16 TBCE TBX1 TBX2 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW UFD1 VDR YY1

Diseases (67) :ORPHA:2604 OMIM:240300 ORPHA:3453 OMIM:600740 ORPHA:189427 ORPHA:567 OMIM:277900 ORPHA:2785 OMIM:239200 OMIM:145980 ORPHA:99879 OMIM:145000 OMIM:145001 ORPHA:99880 ORPHA:143 OMIM:608266 ORPHA:652 ORPHA:276152 OMIM:610755 OMIM:214800 OMIM:617671 OMIM:301050 ORPHA:550 ORPHA:289157 OMIM:264700 OMIM:192430 ORPHA:93325 OMIM:127000 ORPHA:705 OMIM:146255 ORPHA:2237 ORPHA:2239 OMIM:617343 OMIM:145981 OMIM:174800 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 OMIM:612463 ORPHA:746 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:611174 ORPHA:235 ORPHA:97279 ORPHA:209905 ORPHA:534 ORPHA:280651 ORPHA:369837 OMIM:618107 OMIM:617157 ORPHA:464288 OMIM:146200 OMIM:156400 OMIM:171400 OMIM:601678 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 OMIM:618223 ORPHA:93160 OMIM:277440

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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