Human Phenotype Ontology

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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 adrenal glands (HP:0000834)

Parent Node:
Abnormality of adrenal morphology (HP:0011732)

..Starting node
..Adrenal hypoplasia (HP:0000835)

Term ID:

835

Name:

Adrenal hypoplasia

Synonym:

Adrenal gland hypoplasia; Hypoplastic adrenal glands; Small adrenal glands; Underdeveloped adrenal glands

Definition:

Developmental hypoplasia of the adrenal glands.

Comments:

Reference:

HP:0000835

Genes and Diseases:

Child Nodes:

........

Adrenal medullary hypoplasia (HP:0008239)

........

Congenital adrenal hypoplasia (HP:0008244)

Sister Nodes:

Adrenal calcification (HP:0010512)

Adrenal gland dysgenesis (HP:0008216)

Adrenal hyperplasia (HP:0008221)

Adrenocortical abnormality (HP:0000849)

Adrenocortical cytomegaly (HP:0008186)

Ectopic adrenal gland (HP:0011742)

Neoplasm of the adrenal gland (HP:0100631)

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:0000835	HP:0000835	Adrenal hypoplasia	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0000835	HP:0000835	Adrenal hypoplasia	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000835	HP:0000835	Adrenal hypoplasia	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0000835	HP:0000835	Adrenal hypoplasia	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent		114
HP:0000835	HP:0000835	Adrenal hypoplasia	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	HP:0003577 - Congenital onset	114
HP:0000835	HP:0000835	Adrenal hypoplasia	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		200
HP:0000835	HP:0000835	Adrenal hypoplasia	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000835	HP:0000835	Adrenal hypoplasia	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040282 - Frequent		31
HP:0000835	HP:0000835	Adrenal hypoplasia	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040282 - Frequent		31
HP:0000835	HP:0000835	Adrenal hypoplasia	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0000835	HP:0000835	Adrenal hypoplasia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0000835	HP:0000835	Adrenal hypoplasia	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		2
HP:0000835	HP:0000835	Adrenal hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		21
HP:0000835	HP:0000835	Adrenal hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		43
HP:0000835	HP:0000835	Adrenal hypoplasia	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0000835	HP:0000835	Adrenal hypoplasia	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0000835	HP:0000835	Adrenal hypoplasia	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040282 - Frequent		183
HP:0000835	HP:0000835	Adrenal hypoplasia	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.		48
HP:0000835	HP:0000835	Adrenal hypoplasia	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	HP:0040283 - Occasional		34
HP:0000835	HP:0000835	Adrenal hypoplasia	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000835	HP:0000835	Adrenal hypoplasia	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent		1129
HP:0000835	HP:0000835	Adrenal hypoplasia	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000835	HP:0000835	Adrenal hypoplasia	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0000835	HP:0000835	Adrenal hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		34
HP:0000835	HP:0000835	Adrenal hypoplasia	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		7
HP:0000835	HP:0000835	Adrenal hypoplasia	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0000835	HP:0000835	Adrenal hypoplasia	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive			4
HP:0000835	HP:0000835	Adrenal hypoplasia	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.		57
HP:0000835	HP:0000835	Adrenal hypoplasia	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040281 - Very frequent		57
HP:0000835	HP:0000835	Adrenal hypoplasia	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040283 - Occasional		134
HP:0000835	HP:0000835	Adrenal hypoplasia	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040282 - Frequent		2
HP:0000835	HP:0000835	Adrenal hypoplasia	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0000835	HP:0000835	Adrenal hypoplasia	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0000835	HP:0000835	Adrenal hypoplasia	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		10
HP:0000835	HP:0000835	Adrenal hypoplasia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0000835	HP:0000835	Adrenal hypoplasia	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0000835	HP:0008244	Congenital adrenal hypoplasia	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0000835	HP:0008244	Congenital adrenal hypoplasia	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0000835	HP:0008239	Adrenal medullary hypoplasia	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.		4
HP:0000835	HP:0008244	Congenital adrenal hypoplasia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83

Genes (29) :ADH5 BMP4 CCDC22 CDKN1C CDON CILK1 CYP11A1 GLI3 GPR161 HESX1 LHX4 LMNA MKS1 MTHFR NR0B1 NSDHL PEX1 POLE POMC PROKR2 ROBO1 SIX3 TBC1D7 TBX19 TNXB VANGL2 WASHC5 WDR11 ZMPSTE24

Diseases (26) :OMIM:619151 OMIM:607932 ORPHA:7 ORPHA:85173 OMIM:614732 ORPHA:95496 OMIM:612651 ORPHA:168558 ORPHA:289548 OMIM:146510 ORPHA:672 ORPHA:1662 OMIM:249000 ORPHA:563609 OMIM:300200 OMIM:308050 OMIM:214100 OMIM:618336 OMIM:609734 OMIM:157170 OMIM:248000 OMIM:201400 ORPHA:199296 ORPHA:230839 OMIM:220210 OMIM:275210

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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