Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000828	HP:0000828	Abnormality of the parathyroid gland	0	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0011767	Abnormality of the parathyroid physiology	1	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0011766	Abnormality of the parathyroid morphology	1	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0100733	Neoplasm of the parathyroid gland	2	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0000852	Pseudohypoparathyroidism	2	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0011768	Parathyroid dysgenesis	2	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0008208	Parathyroid hyperplasia	2	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0000843	Hyperparathyroidism	2	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0000829	Hypoparathyroidism	2	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0011769	Ectopic parathyroid	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0011770	Tertiary hyperparathyroidism	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0000867	Secondary hyperparathyroidism	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0008198	Congenital hypoparathyroidism	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0006780	Parathyroid carcinoma	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0000860	Parathyroid hypoplasia	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0008200	Primary hyperparathyroidism	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0011771	Autoimmune hypoparathyroidism	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0002897	Parathyroid adenoma	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HP:0000828	HP:0008211	Parathyroid agenesis	3	PTEN CL E G H	5728	2969		ORPHA	1	3012	9588	601728
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000828	HP:0000828	Abnormality of the parathyroid gland	0	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0011766	Abnormality of the parathyroid morphology	1	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0011767	Abnormality of the parathyroid physiology	1	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0011768	Parathyroid dysgenesis	2	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0008208	Parathyroid hyperplasia	2	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0000843	Hyperparathyroidism	2	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0000829	Hypoparathyroidism	2	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0100733	Neoplasm of the parathyroid gland	2	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0000852	Pseudohypoparathyroidism	2	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0000867	Secondary hyperparathyroidism	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0008198	Congenital hypoparathyroidism	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0006780	Parathyroid carcinoma	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0000860	Parathyroid hypoplasia	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0008200	Primary hyperparathyroidism	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0011771	Autoimmune hypoparathyroidism	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0002897	Parathyroid adenoma	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0008211	Parathyroid agenesis	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0011769	Ectopic parathyroid	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320
HP:0000828	HP:0011770	Tertiary hyperparathyroidism	3	GNAS CL E G H	2778	2762	Hyalinosis systemic short stature	ORPHA	0	644	4392	139320