TaoMedAI/RareMedData huggingface dataset:
Gene: CTNNB1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Portal vein thrombosis (HP:0030242)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CTNNB1
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CTNNB1
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CTNNB1
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: Pilomatrixoma; Epithelioma calcificans of Malherbe; Pilomatricoma (ORPHA:91414)
Gene: CTNNB1
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: PILOMATRIXOMA (OMIM:132600)
Gene: CTNNB1
Phenotype: Flat occiput (HP:0005469)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Facial hyperostosis (HP:0005465)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Ovarian papillary adenocarcinoma (HP:0006774)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: CTNNB1
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Cataract (HP:0000518)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Cataract (HP:0000518)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Gene: CTNNB1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Gene: CTNNB1
Phenotype: Myopia (HP:0000545)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNND1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CTNND1
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Cleft lip (HP:0410030)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Distichiasis (HP:0009743)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Distichiasis (HP:0009743)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CTNND1
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Conical tooth (HP:0000698)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Conical tooth (HP:0000698)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Euryblepharon (HP:0012905)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Euryblepharon (HP:0012905)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CTNND1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Flat face (HP:0012368)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CTNND1
Phenotype: High forehead (HP:0000348)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Gene: CTNND1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CTNND1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CTNND1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CTNND2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CTNND2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CTNND2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Myoclonus (HP:0001336)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CTNND2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CTNND2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CTNND2
Phenotype: Hand tremor (HP:0002378)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CTNND2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CTNND2
Phenotype: Headache (HP:0002315)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CTNND2
Phenotype: Cat cry (HP:0200046)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Small hand (HP:0200055)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Short stature (HP:0004322)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: High palate (HP:0000218)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Round face (HP:0000311)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Short neck (HP:0000470)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTNND2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cri du chat syndrome; Monosomy 5p syndrome; Deletion 5p (ORPHA:281)
Gene: CTPS1
Phenotype: Persistent viremia (HP:0032248)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Partial absence of specific antibody response to tetanus vaccine (HP:0410297)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Reduced mucosal-associated invariant T cell proportion (HP:4000039)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Abnormal T cell proliferation (HP:0031379)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Decreased specific pneumococcal antibody level (HP:0012476)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Severe viral infection (HP:0031691)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTPS1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Gene: CTSB
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: KERATOLYTIC WINTER ERYTHEMA (OMIM:148370)
Gene: CTSB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATOLYTIC WINTER ERYTHEMA (OMIM:148370)
Gene: CTSB
Phenotype: Pustule (HP:0200039)
Associated disease: Keratolytic winter erythema; Oudtshoorn disease; Erythrokeratolysis hiemalis (ORPHA:50943)
Gene: CTSB
Phenotype: Erythema (HP:0010783)
Associated disease: Keratolytic winter erythema; Oudtshoorn disease; Erythrokeratolysis hiemalis (ORPHA:50943)
Gene: CTSB
Phenotype: Erythema (HP:0010783)
Associated disease: KERATOLYTIC WINTER ERYTHEMA (OMIM:148370)
Gene: CTSB
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Keratolytic winter erythema; Oudtshoorn disease; Erythrokeratolysis hiemalis (ORPHA:50943)
Gene: CTSB
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: KERATOLYTIC WINTER ERYTHEMA (OMIM:148370)
Gene: CTSD
Phenotype: Split hand (HP:0001171)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Spasticity (HP:0001257)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Neonatal death (HP:0003811)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTSD
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Rigidity (HP:0002063)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Status epilepticus (HP:0002133)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Apnea (HP:0002104)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Gene: CTSD
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)