Disease Index
9,486 diseasesfamilial clubfoot due to PITX1 point mutation
human disease
familial clubfoot with or without associated lower limb anomalies
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP gene on chromosome 1q44
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP12 gene on chromosome 19q13
MeSH: C567090
familial cold autoinflammatory syndrome 3
human disease
familial cold autoinflammatory syndrome 4
human disease
familial cold urticaria
primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia
familial colorectal cancer type X
hereditary nonpolyposis colorectal cancer, characterized by the absence of germline mutations in DNA mismatch-repair genes
familial congenital mirror movements
human disease
familial congenital nasolacrimal duct obstruction
human disease
MeSH: C566703
familial congenital palsy of trochlear nerve
instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome
MeSH: C565007
familial cortical myoclonus
familial cutaneous collagenoma
medical condition
MeSH: C562925
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
human disease
familial cylindromatosis
human disease
MeSH: C536611
familial cystic renal disease
human disease
familial developmental dysphasia
MeSH: C563997
familial digital arthropathy-brachydactyly
MeSH: C564656
familial dilated cardiomyopathy
heart condition
MeSH: C536231
familial dysalbuminemic hyperthyroxinemia
medical condition
MeSH: D050010
familial dysbetalipoproteinemia
Human disease
MeSH: D006952
familial dyskinesia and facial myokymia
familial encephalopathy with neuroserpin inclusion bodies
human disease
MeSH: C536841
familial episodic pain syndrome
human disease
familial episodic pain syndrome with predominantly lower limb involvement
rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age
familial episodic pain syndrome with predominantly upper body involvement
human disease
familial erythrocytosis 1
Human disease
familial erythrocytosis 2
human disease
MeSH: C563918
familial flecked retinopathy
human disease
familial gastric type 1 neuroendocrine tumor
human disease