Rare Disease Library

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

Marin-Amat syndrome

Marinesco-Sjögren syndrome

Marshall syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Martínez-Frías syndrome

Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome

Martinique crinkled retinal pigment epitheliopathy

MCRPE

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Mast cell leukemia

Mast cell sarcoma

Mastocytosis

Maternal disease-related embryofetopathy

Maternal hyperthermia-induced birth defects

Maternal phenylketonuria syndrome

Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia

Maternal riboflavin deficiency

Maternal uniparental disomy of chromosome 1 syndrome

UPD(1)mat

Maternal uniparental disomy of chromosome 13 syndrome

UPD(13)mat

Maternal uniparental disomy of chromosome 16 syndrome

UPD(16)mat

Maternal uniparental disomy of chromosome 2 syndrome

UPD(2)mat

Maternal uniparental disomy of chromosome 20 syndrome

UPD(20)mat · Maternal UPD(20)

Maternal uniparental disomy of chromosome 21 syndrome

UPD(21)mat

Maternal uniparental disomy of chromosome 22 syndrome

UPD(22)mat

Maternal uniparental disomy of chromosome 4 syndrome

UPD(4)mat

Maternal uniparental disomy of chromosome 6 syndrome

UPD(6)mat

Maternal uniparental disomy of chromosome 9 syndrome

UPD(9)mat

Maternal uniparental disomy of chromosome X syndrome

UPD(X)mat

Maternal uniparental disomy syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

May-Hegglin thrombocytopenia

MHA · May-Hegglin anomaly

May-Thurner syndrome

MTS · Cockett syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Mazabraud syndrome

Myxoma with fibrous dysplasia

MBD4-related tumor predisposition syndrome

McCune-Albright syndrome

McDonough syndrome

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

Meacham syndrome

Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

Meconium aspiration syndrome

MECP2-related severe neonatal encephalopathy

Severe congenital encephalopathy due to MECP2 mutation

Medial condensing osteitis of the clavicle

Osteitis condensans of the clavicle

Median cleft lip/mandible

Median mandibular cleft · Median cleft lower facial stage

Median cleft of the upper lip and maxilla