Diffuse cerebral calcification

Symptom Information:

Symptom ID: HPO:0005849
Synonyms:
Intracranial calcification [Orphanet:42930]
Cerebral calcification [Orphanet:42930]
Cerebral calcification (disorder) [Orphanet:42930]
Diffuse cerebral calcification [OMIM:Diffuse cerebral calcification]
Intracranial/cerebral calcifications [Orphanet:42930]
Cerebral calcification [MedDRA:10066296]
Cerebral parenchymal calcification [MedDRA:10066296]
Occipital calcification [MedDRA:10066296]
Cerebral calcifications [OMIM:Cerebral calcifications]
Intracranial calcifications (1 patient) [OMIM:Intracranial calcifications (1 patient)]
Quality:
Cross references:
HPO:0002514 "Cerebral calcification" [Orphanet:42930]
HPO:0005671 "Bilateral intracranial calcifications" [Orphanet:42930]
Orphanet:42930 "Intracranial/cerebral calcifications" [Orphanet:42930]
OMIM: "Diffuse cerebral calcification" [OMIM:Diffuse cerebral calcification]
OMIM: "Cerebral calcifications" [OMIM:Cerebral calcifications]
OMIM: "Intracranial calcifications (1 patient)" [OMIM:Intracranial calcifications (1 patient)]
UMLS:C0270685 "Cerebral calcification" [Orphanet:42930]
Is a (Direct Parents):
HPO         Cerebral calcification
MedDRA Structural brain disorders NEC
Orphanet Cerebral calcification
Orphanet Structural anomalies of the nervous system
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Ectopic calcification(HPO:0010766)
             Cerebral calcification(HPO:0002514)
                Diffuse cerebral calcification(HPO:0005849)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Structural brain disorders(MedDRA:10042258)
       Structural brain disorders NEC(MedDRA:10042259)
          Diffuse cerebral calcification(HPO:0005849)
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

Classical phenylketonuria (Orphanet:79254)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 (OMIM:613987)
Dihydropteridine reductase deficiency (Orphanet:226)
Keutel syndrome (Orphanet:85202)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
MELAS (Orphanet:550)
Maternal hyperphenylalaninemia (Orphanet:2209)
OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION (OMIM:259660)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)