TaoMedAI/RareMedData huggingface dataset:
Gene: EDARADD
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
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: EDARADD
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Hypohidrotic ectodermal dysplasia (HP:0007607)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Hypohidrotic ectodermal dysplasia (HP:0007607)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Sparse body hair (HP:0002231)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Sparse body hair (HP:0002231)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Fine hair (HP:0002213)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Fine hair (HP:0002213)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Absent hair (HP:0002298)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Brittle hair (HP:0002299)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Periorbital wrinkles (HP:0000607)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Periorbital wrinkles (HP:0000607)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Conical tooth (HP:0000698)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Conical tooth (HP:0000698)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Anodontia (HP:0000674)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Anodontia (HP:0000674)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Oligodontia (HP:0000677)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Oligodontia (HP:0000677)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Microdontia (HP:0000691)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Microdontia (HP:0000691)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Hypodontia (HP:0000668)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Childhood onset (HP:0011463)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Dry skin (HP:0000958)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Dry skin (HP:0000958)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Dry skin (HP:0000958)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Dry skin (HP:0000958)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Thin skin (HP:0000963)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Sparse hair (HP:0008070)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Alopecia (HP:0001596)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Xerostomia (HP:0000217)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Rhinitis (HP:0012384)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Ridged nail (HP:0001807)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Prominent forehead (HP:0011220)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: NAXE
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Ataxia (HP:0001251)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Dysarthria (HP:0001260)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Coma (HP:0001259)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Death in childhood (HP:0003819)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Tremor (HP:0001337)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Cerebellar edema (HP:0030915)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Rigidity (HP:0002063)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Abnormal activity of mitochondrial respiratory chain (HP:0011922)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Cerebral edema (HP:0002181)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Myelopathy (HP:0002196)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Bradypnea (HP:0046507)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Tetraparesis (HP:0002273)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Skin erosion (HP:0200041)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Abducens palsy (HP:0006897)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Nystagmus (HP:0000639)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Irritability (HP:0000737)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Restlessness (HP:0000711)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Respiratory failure (HP:0002878)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Fatigue (HP:0012378)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Strabismus (HP:0000486)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Brain atrophy (HP:0012444)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Torticollis (HP:0000473)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Gene: NAXE
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)