TaoMedAI/RareMedData huggingface dataset:
Gene: CPLANE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: CPLANE1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: CPLANE1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: CPLANE1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: CPLANE1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CPLANE1
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CPLANE1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: CPLANE1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CPLANE1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: CPLANE1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CPLANE1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: CPLANE1
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CPLANE1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Esotropia (HP:0000565)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Esotropia (HP:0000565)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: CPLANE1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COA7
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Steppage gait (HP:0003376)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Demyelinating sensory neuropathy (HP:0011402)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Hammertoe (HP:0001765)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: COA7
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Gene: WNK4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIB (OMIM:614491)
Gene: WNK4
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIB (OMIM:614491)
Gene: WNK4
Phenotype: Pseudohypoaldosteronism (HP:0008242)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIB (OMIM:614491)
Gene: WNK4
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIB (OMIM:614491)
Gene: WNK4
Phenotype: Hyperchloremia (HP:0011423)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIB (OMIM:614491)
Gene: WNK4
Phenotype: Hypertension (HP:0000822)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIB (OMIM:614491)
Gene: WNK3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Hypotonia (HP:0001252)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Coxa valga (HP:0002673)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Skin dimple (HP:0010781)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Nystagmus (HP:0000639)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Epicanthus (HP:0000286)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Retrognathia (HP:0000278)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Low-set ears (HP:0000369)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: High forehead (HP:0000348)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Strabismus (HP:0000486)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Prominent nose (HP:0000448)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: WNK3
Phenotype: Ptosis (HP:0000508)
Associated disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Gene: STK33
Phenotype: Bent sperm flagella (HP:0034811)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Short sperm flagella (HP:0032559)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Young adult onset (HP:0011462)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Oligozoospermia (HP:0000798)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Male infertility (HP:0003251)
Associated disease:  (OMIM:620849)
Gene: STK33
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease:  (OMIM:620849)
Gene: DDRGK1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Abnormal bronchus morphology (HP:0025426)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Severe short stature (HP:0003510)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Central vertebral hypoplasia (HP:0008463)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Central vertebral hypoplasia (HP:0008463)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Gene: DDRGK1
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Squared-off platyspondyly (HP:0008418)
Associated disease: SEMD, Shohat type; Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Gene: DDRGK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDRGK1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDRGK1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)