TaoMedAI/RareMedData huggingface dataset:
Gene: PRDM16
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Long philtrum (HP:0000343)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Pointed chin (HP:0000307)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Annular pancreas (HP:0001734)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Strabismus (HP:0000486)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Short foot (HP:0001773)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Cataract (HP:0000518)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Visual impairment (HP:0000505)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: ANO3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Myoclonus (HP:0001336)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Limb tremor (HP:0200085)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Hand tremor (HP:0002378)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Head tremor (HP:0002346)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Arm dystonia (HP:0031960)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: ANO3
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Vocal tremor (HP:0012477)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Torticollis (HP:0000473)
Associated disease: Dystonia 24; DYT24; Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Gene: ANO3
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 24 (OMIM:615034)
Gene: PERP
Phenotype: Cheilitis (HP:0100825)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Seizure (HP:0001250)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Perioral hyperkeratosis (HP:0033707)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Skin fissure (HP:0031057)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Ankylosis (HP:0031013)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 (OMIM:619209)
Gene: PERP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Osteolysis (HP:0002797)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Infantile onset (HP:0003593)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Woolly hair (HP:0002224)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 (OMIM:619209)
Gene: PERP
Phenotype: Woolly hair (HP:0002224)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Parakeratosis (HP:0001036)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Thickened skin (HP:0001072)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Erythema (HP:0010783)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Carious teeth (HP:0000670)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Hypodontia (HP:0000668)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 (OMIM:619209)
Gene: PERP
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Pruritus (HP:0000989)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 (OMIM:619209)
Gene: PERP
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Sparse hair (HP:0008070)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Sparse hair (HP:0008070)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Alopecia (HP:0001596)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Melanoma (HP:0002861)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Flexion contracture of digit (HP:0030044)
Associated disease: OLMSTED SYNDROME 2 (OMIM:619208)
Gene: PERP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Palmoplantar and periorificial keratoderma; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Olmsted syndrome (ORPHA:659)
Gene: PERP
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 (OMIM:619209)
Gene: CDH23
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH23
Phenotype: Visual field defect (HP:0001123)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Sudden loss of visual acuity (HP:0001117)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Sudden loss of visual acuity (HP:0001117)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Stroke (HP:0001297)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Panic attack (HP:0025269)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Galactorrhea (HP:0100829)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Seizure (HP:0001250)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Seizure (HP:0001250)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Ataxia (HP:0001251)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PITUITARY ADENOMA 5, MULTIPLE TYPES (OMIM:617540)
Gene: CDH23
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 12 (OMIM:601386)
Gene: CDH23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Gene: CDH23
Phenotype: Tremor (HP:0001337)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH23
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PITUITARY ADENOMA 5, MULTIPLE TYPES (OMIM:617540)