Rare Disease Library

Isolated congenital radial head dislocation

Isolated congenital elbow dislocation

Isolated focal cortical dysplasia

Epilepsy due to FCD

Isolated focal cortical dysplasia type I

FCD type I

Isolated focal cortical dysplasia type Ia

FCD type Ia

Isolated focal cortical dysplasia type Ib

FCD type Ib

Isolated focal cortical dysplasia type Ic

FCD type Ic

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Isolated focal cortical dysplasia type IIa

FCD type IIa

Isolated focal cortical dysplasia type IIb

FCD type IIb

Isolated focal non-epidermolytic palmoplantar keratoderma

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Isolated proximal femoral focal deficiency

PFFD · CPFD

Ketoacidosis due to monocarboxylate transporter-1 deficiency

Late-onset focal dermal elastosis

PXE-like late-onset focal dermal elastosis · Pseudoxanthoma-like late-onset focal dermal elastosis

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset localized JEB-intellectual disability syndrome

Lethal faciocardiomelic dysplasia

Levocardia

Isolated levocardia · Levocardia with situs inversus

Linear focal elastosis

Linear focal dermal elastosis · Elastotic striae

Localized dystrophic epidermolysis bullosa

Localized DEB

Localized dystrophic epidermolysis bullosa, acral form

Localized DEB, acral form

Localized dystrophic epidermolysis bullosa, nails only

Localized DEB, nails only

Localized dystrophic epidermolysis bullosa, pretibial form

DEB-Pt · Localized DEB, pretibial form

Localized epidermolysis bullosa simplex

EBS-loc · Epidermolysis bullosa simplex of palms and soles

Localized junctional epidermolysis bullosa

JEB-nH loc · Junctional epidermolysis bullosa, non-Herlitz localized type

Localized lichen myxedematosus

Papular mucinosis

Localized lichen myxedematosus with mixed features of different subtypes

Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

Localized lipodystrophy

Localized pagetoid reticulosis

Pagetoid reticulosis, Woringer-Kolopp type

Localized pleural mesothelioma

Localized scleroderma

Localized fibrosing scleroderma

Loeffler endocarditis

Eosinophilic endocarditis

Mesial temporal lobe epilepsy with hippocampal sclerosis

MTLE-HS · Hippocampal sclerosis-related mesial temporal lobe epilepsy

Mesocardia

Midline heart

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

MFHIEN · Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome

MiT family translocation renal cell carcinoma

Carcinoma associated with MITF/TFE translocation · Kidney cancer

Mucinous adenocarcinoma of ovary

Ovarian mucinous adenocarcinoma

Mucinous adenocarcinoma of the appendix

Appendiceal mucinous adenocarcinoma

Mucinous cystadenocarcinoma of the pancreas

Pancreatic mucinous cystadenocarcinoma

Multifocal atrial tachycardia

Chaotic atrial tachycardia · MAT

Multifocal infantile hemangioma with extracutenous involvement

Diffuse neonatal hemangiomatosis

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

MLT · Cutaneovisceral angiomatosis-thrombocytopenia syndrome

Multifocal motor neuropathy

MMN · MMNCB

Multifocal pattern dystrophy simulating fundus flavimaculatus

Multifocal pattern dystrophy simulating Stargardt disease

Multifocal tuberculosis

Neuroendocrine tumor with other location

Neurooculocardiogenitourinary syndrome

NOCGUS · Neuro-oculo-cardio-genito-urinary syndrome

Nocardiosis