TaoMedAI/RareMedData huggingface dataset:
Gene: NUP205
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 13 (OMIM:616893)
Gene: NUP205
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: STAB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERFERRITINEMIA (OMIM:620729)
Gene: STAB1
Phenotype: Elevated circulating hepcidin concentration (HP:0031877)
Associated disease: HYPERFERRITINEMIA (OMIM:620729)
Gene: STAB1
Phenotype: Abnormal circulating iron concentration (HP:0040130)
Associated disease: HYPERFERRITINEMIA (OMIM:620729)
Gene: STAB1
Phenotype: Abnormal circulating ferritin concentration (HP:0040133)
Associated disease: HYPERFERRITINEMIA (OMIM:620729)
Gene: STAB1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HYPERFERRITINEMIA (OMIM:620729)
Gene: SLC35D1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Snail-like ilia (HP:0031026)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Stillbirth (HP:0003826)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Cleft palate (HP:0000175)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Increased fibular diameter (HP:0012107)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Advanced tarsal ossification (HP:0008108)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Advanced tarsal ossification (HP:0008108)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Short long bone (HP:0003026)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Fetal onset (HP:0011461)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Narrow chest (HP:0000774)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Short ribs (HP:0000773)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Short ribs (HP:0000773)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Short nose (HP:0003196)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Malar flattening (HP:0000272)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Micromelia (HP:0002983)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Short neck (HP:0000470)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Short neck (HP:0000470)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Gene: SLC35D1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35D1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: SLC35D1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35D1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPD1L
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Syncope (HP:0001279)
Associated disease: BRUGADA SYNDROME 2 (OMIM:611777)
Gene: GPD1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRUGADA SYNDROME 2 (OMIM:611777)
Gene: GPD1L
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: BRUGADA SYNDROME 2 (OMIM:611777)
Gene: GPD1L
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: BRUGADA SYNDROME 2 (OMIM:611777)
Gene: GPD1L
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Prolonged PR interval (HP:0012248)
Associated disease: BRUGADA SYNDROME 2 (OMIM:611777)
Gene: GPD1L
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: BRUGADA SYNDROME 2 (OMIM:611777)
Gene: GPD1L
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: GPD1L
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: BRUGADA SYNDROME 2 (OMIM:611777)
Gene: LPIN1
Phenotype: Abnormality of glycolipid metabolism (HP:0010969)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
Gene: LPIN1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
Gene: LPIN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
Gene: LPIN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
Gene: LPIN1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
Gene: LPIN1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Acute rhabdomyolysis (HP:0008942)
Associated disease: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
Gene: LPIN1
Phenotype: Dark urine (HP:0040319)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: LPIN1
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)