TaoMedAI/RareMedData huggingface dataset:
Gene: NLRP3
Phenotype: Edema (HP:0000969)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Arthralgia (HP:0002829)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Arthralgia (HP:0002829)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Arthralgia (HP:0002829)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Arthralgia (HP:0002829)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Arthralgia (HP:0002829)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Arthralgia (HP:0002829)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Growth delay (HP:0001510)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Growth delay (HP:0001510)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Fatigue (HP:0012378)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Fatigue (HP:0012378)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Premature birth (HP:0001622)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Keratitis (HP:0000491)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Broad foot (HP:0001769)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Pes cavus (HP:0001761)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Proptosis (HP:0000520)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Proptosis (HP:0000520)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Uveitis (HP:0000554)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Uveitis (HP:0000554)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Uveitis (HP:0000554)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Uveitis (HP:0000554)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Pseudopapilledema (HP:0000538)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: SLITRK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRICHOTILLOMANIA (OMIM:613229)
Gene: SLITRK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Hair-pulling (HP:0012167)
Associated disease: TRICHOTILLOMANIA (OMIM:613229)
Gene: SLITRK1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: TRICHOTILLOMANIA (OMIM:613229)
Gene: SLITRK1
Phenotype: Echolalia (HP:0010529)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Phonic tics (HP:0100035)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Motor tics (HP:0100034)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: SLITRK1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: TRICHOTILLOMANIA (OMIM:613229)
Gene: SLITRK1
Phenotype: Alopecia (HP:0001596)
Associated disease: TRICHOTILLOMANIA (OMIM:613229)
Gene: MYSM1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Congenital onset (HP:0003577)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Anemia (HP:0001903)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Anemia (HP:0001903)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Short stature (HP:0004322)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Short stature (HP:0004322)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Broad clavicles (HP:0000916)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Short humerus (HP:0005792)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Dry skin (HP:0000958)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Dry skin (HP:0000958)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Gene: MYSM1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Panniculitis (HP:0012490)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Cataract (HP:0000518)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Erythroid dysplasia (HP:0031688)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Megakaryocyte dysplasia (HP:0031689)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
Gene: MYSM1
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: MYSM1 deficiency; Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)