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 bone mineral density (HP:0004348)

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

..Starting node
..Rickets (HP:0002748)

Term ID:

2748

Name:

Rickets

Synonym:

Weak and soft bones

Definition:

Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.

Comments:

Reference:

HP:0002748

Genes and Diseases:

Child Nodes:

........

Hypophosphatemic rickets (HP:0004912)

........

Rickets of the lower limbs (HP:0006463)

Sister Nodes:

Generalized bone demineralization (HP:0006462)

Osteomalacia (HP:0002749)

Osteopenia (HP:0000938)

Osteoporosis (HP:0000939)

Patchy reduction of bone mineral density (HP:0010657)

Patchy variation in bone mineral density (HP:0010659)

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:0002748	HP:0002748	Rickets	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0002748	HP:0002748	Rickets	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0002748	HP:0002748	Rickets	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0002748	HP:0002748	Rickets	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0002748	HP:0002748	Rickets	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0002748	HP:0002748	Rickets	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0002748	HP:0002748	Rickets	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0002748	HP:0002748	Rickets	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0002748	HP:0002748	Rickets	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0002748	HP:0002748	Rickets	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0002748	HP:0002748	Rickets	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002748	HP:0002748	Rickets	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002748	HP:0002748	Rickets	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.	178
HP:0002748	HP:0002748	Rickets	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0002748	HP:0002748	Rickets	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0002748	HP:0002748	Rickets	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	41
HP:0002748	HP:0002748	Rickets	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002748	HP:0002748	Rickets	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	5
HP:0002748	HP:0002748	Rickets	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002748	HP:0002748	Rickets	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0002748	HP:0002748	Rickets	0	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.	48
HP:0002748	HP:0002748	Rickets	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.	2
HP:0002748	HP:0002748	Rickets	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0002748	HP:0002748	Rickets	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0002748	HP:0002748	Rickets	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0002748	HP:0002748	Rickets	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0002748	HP:0002748	Rickets	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0002748	HP:0002748	Rickets	0	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1		107
HP:0002748	HP:0002748	Rickets	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002748	HP:0002748	Rickets	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002748	HP:0002748	Rickets	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent	51
HP:0002748	HP:0002748	Rickets	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0002748	HP:0002748	Rickets	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	86
HP:0002748	HP:0002748	Rickets	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0002748	HP:0002748	Rickets	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002748	HP:0002748	Rickets	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002748	HP:0002748	Rickets	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0002748	HP:0002748	Rickets	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0002748	HP:0002748	Rickets	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0002748	HP:0002748	Rickets	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0002748	HP:0002748	Rickets	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0002748	HP:0002748	Rickets	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0002748	HP:0002748	Rickets	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0002748	HP:0002748	Rickets	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0002748	HP:0002748	Rickets	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0002748	HP:0002748	Rickets	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0002748	HP:0002748	Rickets	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0002748	HP:0002748	Rickets	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0002748	HP:0002748	Rickets	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent	217
HP:0002748	HP:0002748	Rickets	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0002748	HP:0002748	Rickets	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0002748	HP:0002748	Rickets	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0002748	HP:0002748	Rickets	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent	71
HP:0002748	HP:0002748	Rickets	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0002748	HP:0002748	Rickets	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0002748	HP:0002748	Rickets	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0002748	HP:0002748	Rickets	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0002748	HP:0002748	Rickets	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002748	HP:0002748	Rickets	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0002748	HP:0002748	Rickets	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0002748	HP:0002748	Rickets	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149
HP:0002748	HP:0002748	Rickets	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2	HP:0040283 - Occasional	415
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0002748	HP:0006463	Rickets of the lower limbs	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate	48
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.	48
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	HP:0040283 - Occasional	151
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate	151
HP:0002748	HP:0006463	Rickets of the lower limbs	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0002748	HP:0006463	Rickets of the lower limbs	1	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional	107
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002748	HP:0004912	Hypophosphatemic rickets	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1

Genes (41) :ABCC6 ADAMTS2 ADAMTSL2 AKR1D1 ALPL ATP6V0A4 ATP7A ATP8B1 BAAT CLCN5 CTNS CYP27B1 CYP2R1 DMP1 EHHADH ENPP1 FAH FARSB FGF23 GATM HLA-DQA1 HLA-DQB1 HNF4A HRAS HSD3B7 KRAS NAB2 NDUFAF6 NRAS OCRL PHEX POLRMT RNU4ATAC RRM2B SLC2A2 SLC34A1 SLC34A3 SLC4A1 STAT6 TJP2 VDR

Diseases (50) :OMIM:614473 ORPHA:51608 ORPHA:1901 ORPHA:79303 OMIM:146300 OMIM:602722 ORPHA:198 OMIM:211600 OMIM:619232 OMIM:300009 OMIM:300554 OMIM:219900 OMIM:219800 ORPHA:411629 ORPHA:289157 OMIM:264700 OMIM:600081 ORPHA:289176 OMIM:241520 OMIM:615605 ORPHA:3337 OMIM:208000 OMIM:613312 ORPHA:882 OMIM:276700 OMIM:613658 ORPHA:89937 OMIM:193100 OMIM:134600 OMIM:212750 OMIM:616026 ORPHA:263455 ORPHA:2874 OMIM:163200 OMIM:607765 ORPHA:2126 OMIM:618913 OMIM:309000 OMIM:307800 ORPHA:89936 OMIM:619743 ORPHA:2636 OMIM:268315 ORPHA:2088 OMIM:613388 ORPHA:157215 OMIM:241530 OMIM:611590 OMIM:607748 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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