TaoMedAI/RareMedData huggingface dataset:
Gene: SPINK5
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TLK2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Constipation (HP:0002019)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Diarrhea (HP:0002014)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Tall chin (HP:0400000)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Absent fourth finger distal interphalangeal crease (HP:0005780)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Kyphosis (HP:0002808)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Hyperventilation (HP:0002883)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Otitis media (HP:0000388)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Pointed chin (HP:0000307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Telecanthus (HP:0000506)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: TLK2
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Gene: KLK11
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Parakeratosis (HP:0001036)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Erythroderma (HP:0001019)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Pruritus (HP:0000989)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Scaling skin (HP:0040189)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Leukonychia (HP:0001820)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KLK11
Phenotype: Nail pits (HP:0001803)
Associated disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Gene: KDELR2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Motor delay (HP:0001270)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Coxa valga (HP:0002673)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Gene: KDELR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KDELR2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KDELR2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: KDELR2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KDELR2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)