TaoMedAI/RareMedData huggingface dataset:
Gene: ZNF408
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Myopia (HP:0000545)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARMC5
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Abnormal response to corticotropin releasing hormone stimulation test (HP:0031077)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Moon facies (HP:0500011)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Macronodular adrenal hyperplasia (HP:0008231)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Macronodular adrenal hyperplasia (HP:0008231)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Adult onset (HP:0003581)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Mania (HP:0100754)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Plethora (HP:0001050)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Striae distensae (HP:0001065)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Acne (HP:0001061)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Hirsutism (HP:0001007)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Memory impairment (HP:0002354)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Neuroendocrine neoplasm (HP:0100634)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Increased body weight (HP:0004324)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Increased body weight (HP:0004324)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Depression (HP:0000716)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Depression (HP:0000716)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Emotional lability (HP:0000712)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Hypertension (HP:0000822)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Hypertension (HP:0000822)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Osteoporosis (HP:0000939)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Alopecia (HP:0001596)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Meningioma (HP:0002858)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Fatigue (HP:0012378)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: ARMC5
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: ARMC5
Phenotype: Round face (HP:0000311)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Gene: HPS6
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Partial albinism (HP:0007443)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Anal atresia (HP:0002023)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Absent platelet dense granules (HP:0033263)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Infantile onset (HP:0003593)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Congenital onset (HP:0003577)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Perineal fistula (HP:0004871)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Amblyopia (HP:0000646)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Photophobia (HP:0000613)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Ecchymosis (HP:0031364)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Endometriosis (HP:0030127)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Strabismus (HP:0000486)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: HPS6
Phenotype: Epistaxis (HP:0000421)
Associated disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Gene: TTC21B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)