|
gum bleeding
|
SYMP_0000742 |
[Gum bleeding is a mouth symptom characterized by a copious discharge of blood from the blood vessels of the mucosal tissue that lies over the alveolar bone.] |
|
mouth bleeding
|
SYMP_0000655 |
|
|
erythrokeratodermia variabilis et progressiva 5
|
DOID_0080251 |
[An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13.] |
|
enterobiasis
|
DOID_7457 |
[A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching.] |
|
anal canal carcinoma
|
DOID_6126 |
[An anal canal cancer that derives_from epithelial cells.] |
|
spastic ataxia 8
|
DOID_0080252 |
[A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21.] |
|
spastic ataxia
|
DOID_0050952 |
[A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.] |
|
genitourinary hemorrhage
|
SYMP_0000740 |
|
|
Meckel syndrome 13
|
DOID_0080253 |
[A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality.] |
|
amyotrophic neuralgia
|
DOID_10383 |
[A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25.] |
|
amyotrophic lateral sclerosis type 23
|
DOID_0080225 |
[An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.] |
|
obsolete papilledema associated with decreased ocular pressure
|
DOID_10384 |
|
|
autosomal dominant intellectual developmental disorder 56
|
DOID_0080226 |
[An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.] |
|
obsolete staphylococcal meningitis
|
DOID_10381 |
|
|
neurological alteration
|
SYMP_0000758 |
|
|
autosomal dominant intellectual developmental disorder 55
|
DOID_0080227 |
[An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.] |
|
parotid pain
|
SYMP_0000759 |
[A pain that is characterized by a pain situated, or occurring, in the parotid gland, which is a salivary gland located in front of the ears. (Additional salivary glands include the submandibular and sublingual glands.) Pain is attributed to swelling of the gland.] |
|
autosomal dominant intellectual developmental disorder 53
|
DOID_0080228 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32.] |
|
obsolete major affective disorder 2
|
DOID_0080221 |
|
|
obsolete precipitate labor
|
DOID_10380 |
|