TaoMedAI/RareMedData huggingface dataset:
Gene: CTSD
Phenotype: Vascular granular osmiophilic material deposition (HP:0003657)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Childhood onset (HP:0011463)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Low-set ears (HP:0000369)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Sloping forehead (HP:0000340)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Premature closure of fontanelles (HP:0005458)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Visual loss (HP:0000572)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSH
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Syncope (HP:0001279)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Cataplexy (HP:0002524)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Slurred speech (HP:0001350)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Nocturia (HP:0000017)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Abnormal pupillary function (HP:0007686)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Constipation (HP:0002019)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Migraine (HP:0002076)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Drooling (HP:0002307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Hallucinations (HP:0000738)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Anxiety (HP:0000739)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Depression (HP:0000716)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Restlessness (HP:0000711)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Psychosis (HP:0000709)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Hypertension (HP:0000822)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Obesity (HP:0001513)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSH
Phenotype: Restless legs (HP:0012452)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CTSK
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Mild conductive hearing impairment (HP:0008598)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Acromelia (HP:0010884)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Scoliosis (HP:0002650)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Scoliosis (HP:0002650)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Wormian bones (HP:0002645)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Wormian bones (HP:0002645)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Narrow palate (HP:0000189)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Spondylolysis (HP:0003304)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Spondylolysis (HP:0003304)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Delayed pneumatization of the mastoid process (HP:0005906)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Osteolytic defects of the distal phalanges of the hand (HP:0009839)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Osteolytic defects of the distal phalanges of the hand (HP:0009839)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Small hand (HP:0200055)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Carious teeth (HP:0000670)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Carious teeth (HP:0000670)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Hypodontia (HP:0000668)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Hypodontia (HP:0000668)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Short stature (HP:0004322)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Mesomelia (HP:0003027)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Narrow chest (HP:0000774)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Stridor (HP:0010307)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Short finger (HP:0009381)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Prominent occiput (HP:0000269)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Kyphosis (HP:0002808)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: High palate (HP:0000218)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Overweight (HP:0025502)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)