TaoMedAI/RareMedData huggingface dataset:
Gene: ALG12
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Short femur (HP:0003097)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Reduced antithrombin antigen (HP:0040246)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Edema (HP:0000969)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Edema (HP:0000969)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Epicanthus (HP:0000286)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Long face (HP:0000276)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Redundant skin (HP:0001582)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Small for gestational age (HP:0001518)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Hyponatremia (HP:0002902)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Micrognathia (HP:0000347)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Short philtrum (HP:0000322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Short philtrum (HP:0000322)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Triangular face (HP:0000325)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Premature birth (HP:0001622)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Strabismus (HP:0000486)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Small nail (HP:0001792)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Wide nose (HP:0000445)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Wide nose (HP:0000445)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Sandal gap (HP:0001852)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Sandal gap (HP:0001852)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: CARD14
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: PSORIASIS 2 (OMIM:602723)
Gene: CARD14
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Neoplasm (HP:0002664)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSORIASIS 2 (OMIM:602723)
Gene: CARD14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Infantile onset (HP:0003593)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Lichenification (HP:0100725)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Parakeratosis (HP:0001036)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Parakeratosis (HP:0001036)
Associated disease: PSORIASIS 2 (OMIM:602723)
Gene: CARD14
Phenotype: Erythroderma (HP:0001019)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PSORIASIS 2 (OMIM:602723)
Gene: CARD14
Phenotype: Papule (HP:0200034)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Pustule (HP:0200039)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Thickened skin (HP:0001072)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Ectropion (HP:0000656)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Pruritus (HP:0000989)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PSORIASIS 2 (OMIM:602723)
Gene: CARD14
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Gene: CARD14
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: CARD14
Phenotype: Scaling skin (HP:0040189)
Associated disease: PSORIASIS 2 (OMIM:602723)
Gene: CARD14
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Pityriasis rubra pilaris (ORPHA:2897)
Gene: NDUFAF5
Phenotype: Fetal distress (HP:0025116)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Poor head control (HP:0002421)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)