se-atlas

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that this support group organisation focuses on:
3M syndrome ANE syndrome Absent thumb-short stature-immunodeficiency syndrome Achondrogenesis Achondrogenesis type 1A Achondrogenesis type 1B Achondrogenesis type 2 Achondroplasia Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Maroteaux type Acromicric dysplasia Alobar holoprosencephaly Alopecia-contractures-dwarfism-intellectual disability syndrome Anauxetic dysplasia Anophthalmia/microphthalmia-esophageal atresia syndrome Atelosteogenesis type II Autosomal dominant hypophosphatemic rickets Autosomal recessive Stickler syndrome Autosomal recessive distal osteolysis syndrome Autosomal recessive hypophosphatemic rickets Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Brachydactylous dwarfism, Mseleni type Braddock syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome Chromosomal anomaly Cleft palate-large ears-small head syndrome Cleft palate-short stature-vertebral anomalies syndrome Combined pituitary hormone deficiencies, genetic forms Congenital laryngeal web Czech dysplasia, metatarsal type Deafness-epiphyseal dysplasia-short stature syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Diastrophic dwarfism Disease associated with non-acquired combined pituitary hormone deficiency Dyggve-Melchior-Clausen disease Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker type Ear-patella-short stature syndrome Ehlers-Danlos syndrome, spondylocheirodysplastic type FGFR3-related chondrodysplasia GMS syndrome Geleophysic dysplasia Geroderma osteodysplastica Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome Hennekam-Beemer syndrome Hereditary hypophosphatemic rickets with hypercalciuria Hoyeraal-Hreidarsson syndrome Hypertrichosis cubiti Hypochondrogenesis Hypochondroplasia Hypophosphatemic rickets Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-short stature-hypertelorism syndrome Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type II Isolated growth hormone deficiency type III Johanson-Blizzard syndrome KBG syndrome Kein Name gefunden Keratosis follicularis-dwarfism-cerebral atrophy syndrome Kniest dysplasia Langer mesomelic dysplasia Laron syndrome Larsen-like osseous dysplasia-short stature syndrome Lenz-Majewski hyperostotic dwarfism Lobar holoprosencephaly Léri-Weill dyschondrosteosis MULIBREY nanism Macrocephaly-short stature-paraplegia syndrome Mandibulofacial dysostosis-microcephaly syndrome Marshall syndrome Mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dysplasia, Nievergelt type Metaphyseal acroscyphodysplasia Metatropic dysplasia Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic primordial dwarfism, Montreal type Microcephalic primordial dwarfism, Toriello type Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Monosomy X Mosaic monosomy X Myhre syndrome Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations Non-acquired combined pituitary hormone deficiency Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired isolated growth hormone deficiency Oculo-palato-cerebral syndrome Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Osteoglosphonic dysplasia Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Panhypopituitarism Parastremmatic dwarfism Progeria-short stature-pigmented nevi syndrome Progressive pseudorheumatoid arthropathy of childhood Pseudoachondroplasia Rare bone disease Rare immune disease Rare inborn errors of metabolism Rare infertility Rare maxillo-facial surgical disease Rare odontologic disease Rare urogenital disease Richieri Costa-Pereira syndrome Richieri Costa-da Silva syndrome Roifman syndrome SPONASTRIME dysplasia Sanjad-Sakati syndrome Schimke immuno-osseous dysplasia Schwartz-Jampel syndrome Seckel syndrome Semilobar holoprosencephaly Septo-optic dysplasia spectrum Septopreoptic holoprosencephaly Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Short stature due to growth hormone qualitative anomaly Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short stature, Brussels type Short stature-craniofacial anomalies-genital hypoplasia syndrome Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome Short stature-valvular heart disease-characteristic facies syndrome Short stature-webbed neck-heart disease syndrome Short stature-wormian bones-dextrocardia syndrome Short-limb skeletal dysplasia with severe combined immunodeficiency Silver-Russell syndrome Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to a point mutation Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Skeletal dysplasia-epilepsy-short stature syndrome Smith-McCort dysplasia Sparse hair-short stature-skin anomalies syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with multiple dislocations Spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Geneviève type Spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Isidor type Spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia, Shohat type Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Cantu type Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Nishimura type Spondyloepiphyseal dysplasia, Reardon type Spondyloperipheral dysplasia-short ulna syndrome Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Sucking/swallowing disorder Tarsal-carpal coalition syndrome Thanatophoric dysplasia Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Turner syndrome Turner syndrome due to structural X chromosome anomalies Urban-Rogers-Meyer syndrome Weissenbacher- Zweymuller syndrome Wolcott-Rallison syndrome X-linked corneal dermoid X-linked creatine transporter deficiency X-linked hypophosphatemia X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked spondyloepimetaphyseal dysplasia