modern wellness · Symptom

Abnormality of metabolism/homeostasis

🩺 HPO Source

HPO ID

HPO Label

Abnormality of metabolism/homeostasis

🔤 Synonyms (2)

Synonyms

Laboratory abnormalityMetabolism abnormality

🔗 Cross-References (1)

UMLSC4021768

🔼 Broader Terms (1)

HP:0000118Phenotypic abnormality

🏥 Conditions where Abnormality of metabolism/homeostasis appears

40 · bridged via HPO ↔ OMIM

syndrome OMIM 264300

17-Hydroxysteroid Dehydrogenase Deficiency

syndrome OMIM 301830

Arthrogryposis Multiplex Congenita, Distal, X-Linked

syndrome OMIM 208400

Aspartylglucosamidase (Aga) Deficiency

phenotype OMIM 208400

Aspartylglucosaminuria

syndrome OMIM 205700

Autoimmune Hemolytic Anemia

disease OMIM 314400

Cardiac Valvular Dysplasia, X-Linked

syndrome OMIM 256730

Ceroid Lipofuscinosis, Neuronal 1, Infantile

syndrome OMIM 256730

Ceroid Lipofuscinosis, Neuronal, 1

syndrome OMIM 216700

Collagenosis, Familial Reactive Perforating

syndrome OMIM 217095

Conotruncal Anomaly Face Syndrome

syndrome OMIM 217095

Conotruncal Heart Malformations (Disorder)

phenotype OMIM 168820

Coronary Artery Spasm 2, Susceptibility To

syndrome OMIM 603165

Dermatitis, Atopic

syndrome OMIM 263000

Desquamative Interstitial Pneumonia

phenotype OMIM 608902

Drug Metabolism, Poor, Cyp2D6-Related

syndrome OMIM 228355

Endemic Cretinism

disease OMIM 226400

Epidermodysplasia Verruciformis

phenotype OMIM 226400

Epidermodysplasia Verruciformis, Susceptibility To, 1

syndrome OMIM 138000

Glomuvenous Malformations

disease OMIM 424500

phenotype OMIM 238340

Hyperleucine-Isoleucinemia

syndrome OMIM 194470

Hyperzincemia And Hypercalprotectinemia

syndrome OMIM 256730

Infantile Neuronal Ceroid Lipofuscinosis

syndrome OMIM 275240

syndrome OMIM 262650

Kowarski Syndrome

syndrome OMIM 600084

Macrocytosis, Familial

syndrome OMIM 217800

Macular Dystrophy, Corneal Type 1

disease OMIM 264600

syndrome OMIM 247200

Miller Dieker Syndrome

syndrome OMIM 254600

Myeloperoxidase Deficiency

syndrome OMIM 601634

Neural Tube Defect, Folate-Sensitive

syndrome OMIM 601223

Neuronal Intestinal Dysplasia, Type B

syndrome OMIM 201300

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

syndrome OMIM 257150

Neutrophil Actin Dysfunction

syndrome OMIM 184700

Polycystic Ovary Syndrome

syndrome OMIM 212790

Premature Centromere Division

syndrome OMIM 264080

Progesterone Resistance

syndrome OMIM 312060

Properdin Deficiency, Type Ii

syndrome OMIM 312060

Properdin Deficiency, Type Iii

syndrome OMIM 312060

Properdin Deficiency, X-Linked