TaoMedAI/RareMedData huggingface dataset:
Gene: XPA
Phenotype: Keratitis (HP:0000491)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Keratitis (HP:0000491)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Pes cavus (HP:0001761)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Cataract (HP:0000518)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Erythematous papule (HP:0030350)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPC
Phenotype: Actinic keratosis (HP:0025127)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Seizure (HP:0001250)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Ataxia (HP:0001251)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Spasticity (HP:0001257)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Neoplasm (HP:0002664)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Freckling (HP:0001480)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Freckling (HP:0001480)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Flat nasal alae (HP:0010649)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Pterygium (HP:0001059)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Developmental regression (HP:0002376)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Telangiectasia (HP:0001009)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Thickened skin (HP:0001072)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Erythema (HP:0010783)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Photophobia (HP:0000613)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Photophobia (HP:0000613)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Fever (HP:0001945)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Entropion (HP:0000621)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Entropion (HP:0000621)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Ectropion (HP:0000656)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Ectropion (HP:0000656)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Short stature (HP:0004322)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Neoplasm of the eye (HP:0100012)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Macule (HP:0012733)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Papilloma (HP:0012740)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Childhood onset (HP:0011463)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Dry skin (HP:0000958)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Thin skin (HP:0000963)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Alopecia (HP:0001596)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Arthralgia (HP:0002829)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Microcephaly (HP:0000252)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Melanoma (HP:0002861)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Fatigue (HP:0012378)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Blepharitis (HP:0000498)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Strabismus (HP:0000486)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Keratitis (HP:0000491)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Keratitis (HP:0000491)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPC
Phenotype: Cataract (HP:0000518)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPC
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Gene: XPNPEP2
Phenotype: Laryngeal edema (HP:0012027)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Swollen lip (HP:0031244)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Tongue edema (HP:0040315)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Palpebral edema (HP:0100540)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Pharyngeal edema (HP:0011855)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Abnormal capillary physiology (HP:0025018)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Urticaria (HP:0001025)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Angioedema (HP:0100665)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Angioedema (HP:0100665)
Associated disease: ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO (OMIM:300909)
Gene: XPNPEP2
Phenotype: Erythema (HP:0010783)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Pruritus (HP:0000989)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XPNPEP2
Phenotype: Facial edema (HP:0000282)
Associated disease: ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Renin-angiotensin-aldosterone system-blocker-induced angioedema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema; RAAS-blocker-induced angioneurotic edema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema (ORPHA:100057)
Gene: XRCC1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC1
Phenotype: Late young adult onset (HP:0025710)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Gene: XRCC2
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: XRCC2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: SPERMATOGENIC FAILURE 50 (OMIM:619145)
Gene: XRCC2
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 50 (OMIM:619145)
Gene: XRCC2
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: XRCC2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: XRCC2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 50 (OMIM:619145)
Gene: XRCC2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Gene: XRCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 50 (OMIM:619145)
Gene: XRCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Absent radius (HP:0003974)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Gene: XRCC2
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Gene: XRCC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: XRCC2
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)