desquamative interstitial pneumonitis due to surfactant Protein C deficiency
|
24465 |
|
MME-related autosomal dominant CMT2
|
44657 |
|
MME-related autosomal dominant Charcot Marie Tooth disease type 2
|
44657 |
|
MME-related autosomal dominant hereditary motor and sensory neuropathy type 2
|
44657 |
|
optic atrophy-peripheral neuropathy-developmental delay syndrome
|
44652 |
|
epidermolytic epidermal nevus
|
44656 |
|
early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
|
44651 |
|
epidermolytic verrucous epidermal nevus
|
44656 |
|
periampullary region of duodenum adenocarcinoma
|
4465 |
|
c12orf65-related combined oxidative phosphorylation defect
|
44655 |
|
ciliary dyskinesia, primary, 30
|
14465 |
|
ciliary dyskinesia, primary, 30, with or without situs inversus
|
14465 |
|
ciliary dyskinesia, primary, 30; CILD30
|
http://purl.obolibrary.org/obo/MONDO_0014465 |
|
ciliary dyskinesia, primary, type 30
|
14465 |
|
Epidermal nevus with epidermolytic hyperkeratosis
|
44656 |
|