TaoMedAI/RareMedData huggingface dataset:
Gene: ECM1
Phenotype: Pustule (HP:0200039)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Thickened skin (HP:0001072)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Verrucae (HP:0200043)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Skin erosion (HP:0200041)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Scarring (HP:0100699)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Scarring (HP:0100699)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Reduced epidermal extracellular matrix protein 1 protein expression (HP:0034760)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Bilateral intracerebral calcifications (HP:0005671)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Hallucinations (HP:0000738)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Temporal lobe calcification (HP:0034293)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: High palate (HP:0000218)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: EDA
Phenotype: Periorbital hyperpigmentation (HP:0001106)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Absent nipple (HP:0002561)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Hypoplastic-absent sebaceous glands (HP:0007411)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Hypohidrotic ectodermal dysplasia (HP:0007607)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Aplasia/Hypoplasia of the eccrine sweat glands (HP:0007592)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Constipation (HP:0002019)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Heat intolerance (HP:0002046)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Infantile onset (HP:0003593)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Sparse body hair (HP:0002231)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Fine hair (HP:0002213)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Brittle hair (HP:0002299)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Aplasia of the maxilla (HP:0010667)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Fever (HP:0001945)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Periorbital wrinkles (HP:0000607)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Conical tooth (HP:0000698)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Taurodontia (HP:0000679)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Anodontia (HP:0000674)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Oligodontia (HP:0000677)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Microdontia (HP:0000691)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Microdontia (HP:0000691)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Hypodontia (HP:0000668)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Short nose (HP:0003196)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Hypertension (HP:0000822)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Soft skin (HP:0000977)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Dry skin (HP:0000958)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Thin skin (HP:0000963)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Sparse hair (HP:0008070)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Concave nail (HP:0001598)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Agenesis of molar (HP:0011054)
Associated disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Gene: EDA
Phenotype: Rhinitis (HP:0012384)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Hoarse voice (HP:0001609)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Dysphonia (HP:0001618)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Short chin (HP:0000331)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDA
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDA
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Gene: EDN1
Phenotype: Cleft helix (HP:0009902)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Abnormality of the crus of the helix (HP:0009895)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Snoring (HP:0025267)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Aplasia/Hypoplasia of the external ear (HP:0008772)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: QUESTION MARK EARS, ISOLATED (OMIM:612798)
Gene: EDN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Glossoptosis (HP:0000162)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Microglossia (HP:0000171)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Mandibular condyle aplasia (HP:0007627)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Mandibular condyle hypoplasia (HP:0007628)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Dental crowding (HP:0000678)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)