SettingsDeficiencies of intracellular signaling peptides and proteins
Bannayan-Riley–Ruvalcaba syndrome
Bannayan–Riley–Ruvalcaba syndrome is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.
Bannayan–Riley–Ruvalcaba syndrome is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.
Bannayan–Riley–Ruvalcaba syndrome
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.
CADASIL syndrome
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disord...
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disord...
Cherubism
Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face.
Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face.
Coffin-Lowry syndrome
Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoli...
Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoli...
Coffin–Lowry syndrome
Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoli...
Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoli...
Cowden syndrome
Cowden syndrome is a rare autosomal dominant inherited disorder by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.
Cowden syndrome is a rare autosomal dominant inherited disorder by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.
Lhermitte-Duclos disease
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of the cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertro...
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of the cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertro...
Lhermitte–Duclos disease
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of the cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertro...
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of the cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertro...
Neurofibromatosis type I
Neurofibromatosis type I, formerly known as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder.
Neurofibromatosis type I, formerly known as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder.
Neurofibromatosis type II
Neurofibromatosis Type II (or "MISME Syndrome", for "Multiple Inherited Schwannomas, Meningiomas, and Ependymomas") is an inherited disease.
Neurofibromatosis Type II (or "MISME Syndrome", for "Multiple Inherited Schwannomas, Meningiomas, and Ependymomas") is an inherited disease.
Peutz-Jeghers syndrome
Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in ...
Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in ...
Peutz–Jeghers syndrome
Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in ...
Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in ...
Polycystic liver disease
Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue, in association with polycystic kidney disease.
Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue, in association with polycystic kidney disease.
Proteus-like syndrome
Proteus-like syndrome is a condition similar to Proteus syndrome, but with an uncertain etiology.
Proteus-like syndrome is a condition similar to Proteus syndrome, but with an uncertain etiology.