TaoMedAI/RareMedData huggingface dataset:
Gene: PUS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Pallor (HP:0000980)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: High palate (HP:0000218)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Growth delay (HP:0001510)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: WNT10A
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Multiple eyelid margin cysts (HP:0034946)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Palmoplantar erythema (HP:0025493)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Widely spaced primary teeth (HP:0006313)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Congenital onset (HP:0003577)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Sparse body hair (HP:0002231)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Sparse body hair (HP:0002231)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Sparse body hair (HP:0002231)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Fine hair (HP:0002213)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Fine hair (HP:0002213)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Erythema (HP:0010783)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Short eyelashes (HP:0010764)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Photophobia (HP:0000613)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Photophobia (HP:0000613)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Dry hair (HP:0011359)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Narrow nail (HP:0011313)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Hypodontia (HP:0000668)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Hypodontia (HP:0000668)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Childhood onset (HP:0011463)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Smooth tongue (HP:0010298)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Dry skin (HP:0000958)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Dry skin (HP:0000958)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Dry skin (HP:0000958)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Dry skin (HP:0000958)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Thin skin (HP:0000963)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Sparse hair (HP:0008070)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Sparse hair (HP:0008070)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Poroma (HP:0031405)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Alopecia (HP:0001596)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Alopecia (HP:0001596)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Conical incisor (HP:0011065)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Abnormality of primary teeth (HP:0006481)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Abnormality of primary teeth (HP:0006481)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: WNT10A
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Apocrine hidrocystoma (HP:0031454)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Bird-like facies (HP:0000320)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Eccrine tumors-ectodermal dysplasia; Schöpf-Schulz-Passarge syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Gene: WNT10A
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: WNT10A
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Small nail (HP:0001792)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Short nail (HP:0001799)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Anonychia (HP:0001798)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Ridged nail (HP:0001807)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Ridged nail (HP:0001807)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Onycholysis (HP:0001806)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Thin nail (HP:0001816)
Associated disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Gene: WNT10A
Phenotype: Thin nail (HP:0001816)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Gene: WNT10A
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Gene: WNT10A
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: DNAJC5
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Parkinsonism (HP:0001300)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Visual hallucination (HP:0002367)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Vascular granular osmiophilic material deposition (HP:0003657)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Depression (HP:0000716)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Dementia (HP:0000726)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Young adult onset (HP:0011462)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003226)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)