HVDRR

GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D

VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA

VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL

RICKETS, HEREDITARY VITAMIN D-RESISTANT

PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA

PDDR IIA

VDDR2A

HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

RICKETS-ALOPECIA SYNDROME

http://purl.bioontology.org/ontology/OMIM/277440

HVDRR

GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D

VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA

VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL

RICKETS, HEREDITARY VITAMIN D-RESISTANT

PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA

PDDR IIA

VDDR2A

HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

RICKETS-ALOPECIA SYNDROME

C0342646

C3536983

12q12-q14

VDR

http://purl.bioontology.org/ontology/OMIM/MTHU008813

http://purl.bioontology.org/ontology/OMIM/MTHU037545

http://purl.bioontology.org/ontology/OMIM/MTHU036379

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU006650

http://purl.bioontology.org/ontology/OMIM/MTHU008805

http://purl.bioontology.org/ontology/OMIM/MTHU006328

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU006333

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU067943

http://purl.bioontology.org/ontology/OMIM/MTHU006643

http://purl.bioontology.org/ontology/OMIM/MTHU008808

http://purl.bioontology.org/ontology/OMIM/MTHU008801

http://purl.bioontology.org/ontology/OMIM/MTHU007511

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU005592

http://purl.bioontology.org/ontology/OMIM/MTHU008800

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU067944

http://purl.bioontology.org/ontology/OMIM/MTHU008814

http://purl.bioontology.org/ontology/OMIM/MTHU006330

http://purl.bioontology.org/ontology/OMIM/MTHU028689

http://purl.bioontology.org/ontology/OMIM/MTHU006647

http://purl.bioontology.org/ontology/OMIM/MTHU006649

http://purl.bioontology.org/ontology/OMIM/MTHU008810

http://purl.bioontology.org/ontology/OMIM/MTHU006653

http://purl.bioontology.org/ontology/OMIM/MTHU006326

http://purl.bioontology.org/ontology/OMIM/MTHU008799

http://purl.bioontology.org/ontology/OMIM/MTHU032662

http://purl.bioontology.org/ontology/OMIM/MTHU006325

http://purl.bioontology.org/ontology/OMIM/MTHU008802

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU003142

http://purl.bioontology.org/ontology/OMIM/MTHU006648

http://purl.bioontology.org/ontology/OMIM/MTHU006645

http://purl.bioontology.org/ontology/OMIM/MTHU006492

http://purl.bioontology.org/ontology/OMIM/MTHU008806

http://purl.bioontology.org/ontology/OMIM/MTHU036949

http://purl.bioontology.org/ontology/OMIM/MTHU006324

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU006329

http://purl.bioontology.org/ontology/OMIM/MTHU008803

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU008809

http://purl.bioontology.org/ontology/OMIM/MTHU006651

http://purl.bioontology.org/ontology/OMIM/MTHU006646

http://purl.bioontology.org/ontology/OMIM/MTHU008804

http://purl.bioontology.org/ontology/OMIM/MTHU006337

http://purl.bioontology.org/ontology/OMIM/MTHU001720

Phenotype description, molecular basis known.

277420

277440

3

pound

VITAMIN D-DEPENDENT RICKETS, TYPE 2A

Caused by mutations in the vitamin D receptor gene (VDR, 601769.0001) [MOLECULAR BASIS]

Onset within first 6 months of life [MISCELLANEOUS]

Some patients can be treated with large doses of vitamin D and calcium [MISCELLANEOUS]

T047