TaoMedAI/RareMedData huggingface dataset:
Gene: IFT80
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT80
Phenotype: Omphalocele (HP:0001539)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT80
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT80
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT80
Phenotype: Long philtrum (HP:0000343)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT80
Phenotype: Micrognathia (HP:0000347)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Micromelia (HP:0002983)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Micromelia (HP:0002983)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT80
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT80
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT80
Phenotype: Short foot (HP:0001773)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Short foot (HP:0001773)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT80
Phenotype: Short foot (HP:0001773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY (OMIM:611263)
Gene: IFT80
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Wide nose (HP:0000445)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT80
Phenotype: Cataract (HP:0000518)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: IFT80
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT80
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT80
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT80
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP126
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: Tremor (HP:0001337)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: Fasciculations (HP:0002380)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CEP126
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: TRMT5
Phenotype: Poor speech (HP:0002465)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Hypertonia (HP:0001276)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Cirrhosis (HP:0001394)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Tremor (HP:0001337)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Narrow mouth (HP:0000160)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Malabsorption (HP:0002024)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Dyspnea (HP:0002094)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Babinski sign (HP:0003487)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Difficulty standing (HP:0003698)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Glycosuria (HP:0003076)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Irritability (HP:0000737)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Young adult onset (HP:0011462)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Triangular face (HP:0000325)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Brain atrophy (HP:0012444)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: TRMT5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Gene: DOCK6
Phenotype: Split hand (HP:0001171)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Hypertonia (HP:0001276)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Hemiparesis (HP:0001269)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Seizure (HP:0001250)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Seizure (HP:0001250)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Hypotonia (HP:0001252)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Cirrhosis (HP:0001394)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Portal hypertension (HP:0001409)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Encephalocele (HP:0002084)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Esophageal varix (HP:0002040)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOCK6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Congenital onset (HP:0003577)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Gene: DOCK6
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DOCK6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DOCK6
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)