TaoMedAI/RareMedData huggingface dataset:
Gene: DDRGK1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Short long bone (HP:0003026)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Short ribs (HP:0000773)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Fibular overgrowth (HP:0003099)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Fibular overgrowth (HP:0003099)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Micromelia (HP:0002983)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Genu varum (HP:0002970)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Short neck (HP:0000470)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MRPS34
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Inability to walk (HP:0002540)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Absent speech (HP:0001344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Tremor (HP:0001337)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Constipation (HP:0002019)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Dysphagia (HP:0002015)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Sleep apnea (HP:0010535)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Progressive (HP:0003676)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Joint contracture (HP:0034392)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Strabismus (HP:0000486)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: MRPS34
Phenotype: Exotropia (HP:0000577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Gene: ZFTA
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Seizure (HP:0001250)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Abnormal cell morphology (HP:0025461)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Vomiting (HP:0002013)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Migraine (HP:0002076)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Supratentorial neoplasm (HP:0030693)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Spinal cord tumor (HP:0010302)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Ependymoma (HP:0002888)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: ZFTA
Phenotype: Pain (HP:0012531)
Associated disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Gene: CRELD1
Phenotype: Tapered finger (HP:0001182)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Clonic seizure (HP:0020221)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Bruxism (HP:0003763)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Ataxia (HP:0001251)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Spasticity (HP:0001257)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Inability to walk (HP:0002540)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Gene: CRELD1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Gene: CRELD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CRELD1
Phenotype: Myoclonus (HP:0001336)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Right aortic arch with mirror image branching (HP:0002627)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Gene: CRELD1
Phenotype: Open mouth (HP:0000194)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Asthenia (HP:0025406)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Hypothermia (HP:0002045)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Clonus (HP:0002169)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Gene: CRELD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Hemangioma (HP:0001028)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Small hand (HP:0200055)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Tube feeding (HP:0033454)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)