Enum: ISDSNosologyGroupEnum

The 41 groups of the ISDS Nosology of Genetic Skeletal Disorders, 2023 revision (PMID:36779427), plus four groups deprecated from the 2019 revision (PMID:31633310) that the 2023 revision dissolved. Values are ordered by their 2023 group number; each description opens with that number and records the 2019 number where it differed.

URI: dismech:enum/ISDSNosologyGroupEnum

Permissible Values

Value	Meaning	Description	Additional Info
fgfr3_chondrodysplasia	None	Group 1 (2023 revision): FGFR3 chondrodysplasias
type_2_collagen	None	Group 2 (2023 revision): Type 2 collagen disorders
type_11_collagen	None	Group 3 (2023 revision): Type 11 collagen disorders
sulphation_disorders	None	Group 4 (2023 revision): Sulfation disorders
dysplasias_with_multiple_joint_dislocations	None	Group 5 (2023 revision): Dysplasias with multiple joint dislocations
filamin_and_related	None	Group 6 (2023 revision): Filamins and related disorders
proteoglycan_core_protein_disorders	None	Group 7 (2023 revision): Proteoglycan core proteins disorders
trpv4	None	Group 8 (2023 revision): TRPV4 disorders
multiple_epiphyseal_dysplasia_and_pseudoachondroplasia	None	Group 9 (2023 revision): Pseudoachondroplasia and the multiple epiphyseal dys...
ciliopathies_with_major_skeletal_involvement	None	Group 10 (2023 revision): Skeletal disorders caused by abnormalities of cilia...
metaphyseal_dysplasias	None	Group 11 (2023 revision): Metaphyseal dysplasias
spondylometaphyseal_dysplasias	None	Group 12 (2023 revision): Spondylometaphyseal dysplasias (SMD)
spondylo_epi_metaphyseal_dysplasias	None	Group 13 (2023 revision): Spondyloepi(meta)physeal dysplasias (SE(M)D)
severe_spondylodysplastic_dysplasias	None	Group 14 (2023 revision): Severe spondylodysplastic dysplasias
mesomelic_and_rhizomesomelic_dysplasias	None	Group 15 (2023 revision): Mesomelic and rhizo-mesomelic dysplasias
acromesomelic_dysplasias	None	Group 16 (2023 revision): Acromesomelic dysplasias
acromelic_dysplasias	None	Group 17 (2023 revision): Acromelic dysplasias
brachydactyly_without_extraskeletal_manifestations	None	Group 18 (2023 revision): Brachydactylies (isolated)
brachydactyly_with_extraskeletal_manifestations	None	Group 19 (2023 revision): Brachydactylies as part of syndromes
bent_bone_dysplasia	None	Group 20 (2023 revision): Bent bones dysplasia group
primordial_dwarfism_and_slender_bones	None	Group 21 (2023 revision): Primordial dwarfism and slender bone dysplasias
lysosomal_storage_with_skeletal_involvement	None	Group 22 (2023 revision): Lysosomal Storage Diseases with Skeletal Involvemen...
chondrodysplasia_punctata	None	Group 23 (2023 revision): Chondrodysplasia punctata (CDP) group
osteopetrosis_and_related	None	Group 24 (2023 revision): Osteopetrosis and related osteoclast disorders
osteosclerotic_disorders	None	Group 25 (2023 revision): Osteosclerotic disorders
osteogenesis_imperfecta_and_decreased_bone_density	None	Group 26 (2023 revision): Osteogenesis Imperfecta and bone fragility group
abnormal_mineralization	None	Group 27 (2023 revision): Disorders of bone mineralisation
parathyroid_hormone_signaling	None	Group 28 (2023 revision): Skeletal disorders of parathyroid hormone signaling...
osteolysis	None	Group 29 (2023 revision): Osteolysis group
disorganized_development_of_skeletal_components	None	Group 30 (2023 revision): Disorganized development of skeletal components gro...
overgrowth_syndromes_with_skeletal_involvement	None	Group 31 (2023 revision): Overgrowth (tall stature) syndromes and segmental o...
genetic_inflammatory_rheumatoid_like_osteoarthropathies	None	Group 32 (2023 revision): Genetic inflammatory or rheumatoid-like osteoarthro...
cleidocranial_dysplasia_and_related	None	Group 33 (2023 revision): Cleidocranial dysplasia and related disorders
craniosynostosis_syndromes	None	Group 34 (2023 revision): Syndromes featuring craniosynostosis
dysostoses_with_predominant_craniofacial_involvement	None	Group 35 (2023 revision): Craniofacial Dysostoses
dysostoses_with_predominant_vertebral_and_costal_involvement	None	Group 36 (2023 revision): Vertebral and costal dysostoses
patellar_dysostoses	None	Group 37 (2023 revision): Patellar dysostoses
limb_hypoplasia_reduction_defects	None	Group 38 (2023 revision): Limb hypoplasia - reduction defects group
ectrodactyly_with_and_without_other_manifestations	None	Group 39 (2023 revision): Split hand/foot with and without other manifestatio...
polydactyly_syndactyly_triphalangism	None	Group 40 (2023 revision): Polydactyly-Syndactyly-Triphalangism group
defects_in_joint_formation_and_synostoses	None	Group 41 (2023 revision): Defects in joint formation and synostoses
perlecan	None	DEPRECATED - HSPG2 (perlecan) disorders — dyssegmental dysplasia (Silverman-H...	DEPRECATED
aggrecan	None	DEPRECATED - ACAN disorders — SED Kimberley type, SEMD aggrecan type, and sho...	DEPRECATED
neonatal_osteosclerotic_dysplasias	None	DEPRECATED - Increased bone density presenting at birth or in early infancy —...	DEPRECATED
other_sclerosing_bone_disorders	None	DEPRECATED - Increased bone mass or density from mechanisms other than osteoc...	DEPRECATED

Slots

Name	Description
classification_value

Identifier and Mapping Information

Schema Source

• from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: ISDSNosologyGroupEnum
description: The 41 groups of the ISDS Nosology of Genetic Skeletal Disorders, 2023
  revision (PMID:36779427), plus four groups deprecated from the 2019 revision (PMID:31633310)
  that the 2023 revision dissolved. Values are ordered by their 2023 group number;
  each description opens with that number and records the 2019 number where it differed.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  fgfr3_chondrodysplasia:
    text: fgfr3_chondrodysplasia
    description: 'Group 1 (2023 revision): FGFR3 chondrodysplasias. Disorders caused
      by gain-of-function (and, for CATSHL, loss-of-function) variation in FGFR3 —
      thanatophoric dysplasia types 1 and 2, SADDAN, achondroplasia, hypochondroplasia,
      CATSHL syndrome. FGFR3-related craniosynostosis is listed in group 34 and LADD
      syndrome in group 40 instead.'
    structured_aliases:
    - literal_form: FGFR3 chondrodysplasia group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 1.
      source: PMID:31633310
    close_mappings:
    - MONDO:0019685
  type_2_collagen:
    text: type_2_collagen
    description: 'Group 2 (2023 revision): Type 2 collagen disorders. COL2A1-related
      type II collagenopathies spanning a lethal-to-mild continuum — achondrogenesis
      type 2, hypochondrogenesis, platyspondylic dysplasia Torrance type, spondyloepiphyseal
      dysplasia congenita, SEMD Strudwick type, Kniest dysplasia, spondyloperipheral
      dysplasia, Czech dysplasia, Stickler syndrome type 1.'
    structured_aliases:
    - literal_form: Type 2 collagen group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 2.
      source: PMID:31633310
  type_11_collagen:
    text: type_11_collagen
    description: 'Group 3 (2023 revision): Type 11 collagen disorders. COL11A1/COL11A2
      disorders — Stickler syndrome types 2 and 3, Marshall syndrome, fibrochondrogenesis,
      otospondylomegaepiphyseal dysplasia (OSMED, recessive and dominant/Weissenbacher-Zweymuller
      types).'
    structured_aliases:
    - literal_form: Type 11 collagen group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 3.
      source: PMID:31633310
  sulphation_disorders:
    text: sulphation_disorders
    description: 'Group 4 (2023 revision): Sulfation disorders. Defects of sulfate
      transport and proteoglycan sulfation — SLC26A2 (achondrogenesis type 1B, atelosteogenesis
      type 2, diastrophic dysplasia, recessive MED), PAPSS2 (SEMD PAPSS2 type, recessive
      brachyolmia), IMPAD1, CHST3 (chondrodysplasia with congenital joint dislocations),
      and CHST14/DSE (musculocontractural Ehlers-Danlos syndrome).'
    structured_aliases:
    - literal_form: Sulphation disorders group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 4.
      source: PMID:31633310
  dysplasias_with_multiple_joint_dislocations:
    text: dysplasias_with_multiple_joint_dislocations
    description: 'Group 5 (2023 revision): Dysplasias with multiple joint dislocations.
      Largely proteoglycan-biosynthesis (linkeropathy) disorders — Desbuquois dysplasia
      types 1 and 2 (CANT1, XYLT1), spondyloepimetaphyseal dysplasia with joint laxity
      (KIF22, B3GALT6, EXOC6B), CSGALNACT1 and B3GAT3 deficiency, pseudodiastrophic
      dysplasia, the kyphoscoliotic Ehlers-Danlos syndromes (PLOD1, FKBP14), and spondylodysplastic
      Ehlers-Danlos syndrome types 1 and 2 (B4GALT7, B3GALT6) — type 3 (SLC39A13)
      is in group 13 instead, so a dismech entry covering all three needs both values.
      Was group 20 in the 2019 revision.'
    structured_aliases:
    - literal_form: Dysplasias with multiple joint dislocations
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        20.
      source: PMID:31633310
  filamin_and_related:
    text: filamin_and_related
    description: 'Group 6 (2023 revision): Filamins and related disorders. FLNA/FLNB
      filaminopathies and mechanistically allied conditions — frontometaphyseal dysplasia
      (FLNA, MAP3K7, TAB2), Melnick-Needles syndrome, otopalatodigital syndromes types
      1 and 2, terminal osseous dysplasia, atelosteogenesis types 1 and 3, dominant
      Larsen syndrome, spondylocarpotarsal synostosis (FLNB, MYH3), Frank-ter Haar
      syndrome (SH3PXD2B), cardiospondylocarpofacial syndrome (MAP3K7). Was group
      7 in the 2019 revision.'
    structured_aliases:
    - literal_form: Filamin group and related disorders
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 7.
      source: PMID:31633310
  proteoglycan_core_protein_disorders:
    text: proteoglycan_core_protein_disorders
    description: 'Group 7 (2023 revision): Proteoglycan core proteins disorders. Disorders
      of the core proteins of cartilage proteoglycans, formed in the 2023 revision
      by merging the former Perlecan (HSPG2 - dyssegmental dysplasia, Schwartz-Jampel
      syndrome) and Aggrecan (ACAN - SED Kimberley type, SEMD aggrecan type, short
      stature with advanced bone age) groups, and additionally holding the biglycan
      (BGN) entry, SEMD Camera type — the revision''s only BGN row, which is why the
      BGN-related Meester-Loeys syndrome is not in group 31. Distinct from the sulfation/linkeropathy
      disorders of group 4, which affect glycosaminoglycan chain synthesis rather
      than the core protein. Has no single counterpart in the 2019 revision: it fuses
      two of them.'
  trpv4:
    text: trpv4
    description: 'Group 8 (2023 revision): TRPV4 disorders. TRPV4 skeletal channelopathies
      spanning a severity continuum — metatropic dysplasia, SED Maroteaux type, spondylometaphyseal
      dysplasia Kozlowski type, autosomal dominant brachyolmia, familial digital arthropathy-brachydactyly.'
    structured_aliases:
    - literal_form: TRPV4 group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 8.
      source: PMID:31633310
    close_mappings:
    - MONDO:0018240
  multiple_epiphyseal_dysplasia_and_pseudoachondroplasia:
    text: multiple_epiphyseal_dysplasia_and_pseudoachondroplasia
    description: 'Group 9 (2023 revision): Pseudoachondroplasia and the multiple epiphyseal
      dysplasias. COMP, MATN3, and type IX collagen (COL9A1/2/3) disorders — pseudoachondroplasia,
      dominant multiple epiphyseal dysplasia, recessive Stickler syndrome. Also holds
      Lowry-Wood syndrome, NOS 09-0110 "Multiple epiphyseal dysplasia with microcephaly
      and nystagmus (Lowry-Wood syndrome), RNU4ATAC-related" (OMIM 226960), which
      the 2023 revision moved here from the primordial dwarfism and slender bones
      group — see that group''s description. Was group 10 in the 2019 revision.'
    structured_aliases:
    - literal_form: Multiple epiphyseal dysplasia and pseudoachondroplasia group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 10.
      source: PMID:31633310
  ciliopathies_with_major_skeletal_involvement:
    text: ciliopathies_with_major_skeletal_involvement
    description: 'Group 10 (2023 revision): Skeletal disorders caused by abnormalities
      of cilia or ciliary signaling. Skeletal ciliopathies caused by intraflagellar-transport
      and basal-body defects — chondroectodermal dysplasia (Ellis-van Creveld), short-rib-polydactyly
      syndromes types 1-5, asphyxiating thoracic dysplasia (Jeune), cranioectodermal
      dysplasia (Levin-Sensenbrenner), Mainzer-Saldino syndrome, axial spondylometaphyseal
      dysplasia, orofaciodigital syndrome types 2 and 4, thoracolaryngopelvic dysplasia.
      Weyers acrofacial (acrodental) dysostosis is listed in group 35 instead. Was
      group 9 in the 2019 revision.'
    structured_aliases:
    - literal_form: Ciliopathies with major skeletal involvement
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 9.
      source: PMID:31633310
  metaphyseal_dysplasias:
    text: metaphyseal_dysplasias
    description: 'Group 11 (2023 revision): Metaphyseal dysplasias. Disorders with
      predominantly metaphyseal change — metaphyseal dysplasia Schmid type (COL10A1),
      cartilage-hair hypoplasia (RMRP), the CHH-like short-stature dysplasias (POP1,
      NEPRO), Shwachman-Diamond syndrome (SBDS, EFL1, DNAJC21, SRP54), metaphyseal
      dysplasia Spahr and metaphyseal anadysplasia (MMP13, MMP9), metaphyseal dysplasia
      with maxillary hypoplasia (RUNX2).'
  spondylometaphyseal_dysplasias:
    text: spondylometaphyseal_dysplasias
    description: 'Group 12 (2023 revision): Spondylometaphyseal dysplasias (SMD).
      Combined vertebral and metaphyseal involvement. The group has exactly six members,
      NOS 12-0010 to 12-0060 — spondyloenchondrodysplasia with immune dysregulation
      (ACP5), odontochondrodysplasia (TRIP11), SMD Sutcliffe or ''corner fracture''
      type (FN1), SMD with cone-rod dystrophy (PCYT1A), SMD with corneal dystrophy
      (PLCB3), and chondrodysplasia-pseudohermaphroditism / Nivelon-Nivelon-Mabille
      syndrome (HHAT).

      Four disorders carrying an SMD name are deliberately placed elsewhere, and the
      group''s own "see also" note lists all four: SMD Kozlowski (TRPV4, group 10),
      severe SMD Sedaghatian type (GPX4, group 14), and axial SMD in its CFAP410-related
      and NEK1-related forms (group 10, skeletal ciliopathies). TRIP11 additionally
      spans two groups by severity — odontochondrodysplasia here, achondrogenesis
      type 1A in group 14 — and MIM 184255 is gene-split between NOS 12-0030 (FN1)
      and NOS 02-0050 (COL2A1), with the row note "Some cases are linked to COL2A1
      but not the original family". A radiographic SMD label is therefore a poor predictor
      of group-12 membership; check Table 1.'
  spondylo_epi_metaphyseal_dysplasias:
    text: spondylo_epi_metaphyseal_dysplasias
    description: 'Group 13 (2023 revision): Spondyloepi(meta)physeal dysplasias (SE(M)D).
      A large, molecularly heterogeneous group with vertebral plus epiphyseal (with
      or without metaphyseal) involvement — Dyggve-Melchior-Clausen dysplasia, immuno-osseous
      dysplasia (Schimke), Wolcott-Rallison syndrome, the named SEMD types (matrilin/MATN3,
      biglycan, NANS, RSPRY1, TMEM165, EXTL3, DDRGK1, UFSP2, DDR2), X-linked SED tarda
      (TRAPPC2), spondylodysplastic Ehlers-Danlos syndrome (SLC39A13), SPONASTRIME
      dysplasia, Steel syndrome, CODAS, EVEN-PLUS and CAGSSS syndromes.'
    structured_aliases:
    - literal_form: Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 13.
      source: PMID:31633310
  severe_spondylodysplastic_dysplasias:
    text: severe_spondylodysplastic_dysplasias
    description: 'Group 14 (2023 revision): Severe spondylodysplastic dysplasias.
      Perinatally severe/lethal platyspondylic conditions — achondrogenesis type 1A
      (TRIP11), Schneckenbecken dysplasia (SLC35D1), SMD Sedaghatian type (GPX4),
      opsismodysplasia (INPPL1).'
  mesomelic_and_rhizomesomelic_dysplasias:
    text: mesomelic_and_rhizomesomelic_dysplasias
    description: 'Group 15 (2023 revision): Mesomelic and rhizo-mesomelic dysplasias.
      Middle-segment (with or without proximal-segment) shortening — Leri-Weill dyschondrosteosis
      and Langer mesomelic dysplasia (SHOX), Robinow syndrome (ROR2, NXN, WNT5A, DVL1,
      DVL3, FZD2), omodysplasia (GPC6, FZD2), and the Kantaputra, Nievergelt, Kozlowski-Reardon,
      Savarirayan, and Verloes-David-Pfeiffer mesomelic dysplasias. Was group 17 in
      the 2019 revision.'
    structured_aliases:
    - literal_form: Mesomelic and rhizo-mesomelic dysplasias
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        17.
      source: PMID:31633310
  acromesomelic_dysplasias:
    text: acromesomelic_dysplasias
    description: 'Group 16 (2023 revision): Acromesomelic dysplasias. BMP/GDF/NPR2-pathway
      disorders with combined middle- and distal-segment shortening — acromesomelic
      dysplasia type Maroteaux (NPR2), Grebe dysplasia and the GDF5/BMPR1B chondrodysplasias,
      fibular hypoplasia with complex brachydactyly (Du Pan).'
    close_mappings:
    - MONDO:0019696
  acromelic_dysplasias:
    text: acromelic_dysplasias
    description: 'Group 17 (2023 revision): Acromelic dysplasias. Short-hand/foot
      dysplasias — acrocapitofemoral dysplasia (IHH), geleophysic and acromicric dysplasia
      (ADAMTSL2, FBN1, LTBP3), Weill-Marchesani syndrome, Myhre dysplasia (SMAD4),
      acrodysostosis (PDE4D, PRKAR1A), Albright hereditary osteodystrophy (GNAS),
      Leri pleonosteosis. The 2023 revision moved trichorhinophalangeal dysplasia
      types 1-3 and Langer-Giedion syndrome out of this group into group 19, Brachydactylies
      as part of syndromes, and moved in the GNAS entity that the 2019 revision listed
      as "Pseudohypoparathyroidism type IA" in group 38 — same OMIM 103580, renamed
      to Albright hereditary osteodystrophy. This is the only PTH-adjacent GNAS disorder
      in the nosology outside group 30; note that it is here and NOT in group 28,
      which despite its name holds only PTH1R/PTHLH/SIK3 disorders. Was group 15 in
      the 2019 revision.'
    structured_aliases:
    - literal_form: Acromelic dysplasias
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        15.
      source: PMID:31633310
  brachydactyly_without_extraskeletal_manifestations:
    text: brachydactyly_without_extraskeletal_manifestations
    description: 'Group 18 (2023 revision): Brachydactylies (isolated). Isolated brachydactyly
      types A1 (IHH), A2 (BMPR1B, BMP2, GDF5), B (ROR2), B2 (NOG), C (GDF5), D (HOXD13)
      and E (HOXD13; the PTHLH-related type E2 is in group 28), plus brachydactyly
      with anonychia (Cooks syndrome, KCNJ2). Was group 37 in the 2019 revision.'
    structured_aliases:
    - literal_form: Brachydactylies (without extraskeletal manifestations)
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 37.
      source: PMID:31633310
  brachydactyly_with_extraskeletal_manifestations:
    text: brachydactyly_with_extraskeletal_manifestations
    description: 'Group 19 (2023 revision): Brachydactylies as part of syndromes.
      Syndromic brachydactyly — brachydactyly-mental retardation syndrome (HDAC4),
      hyperphosphatasia with mental retardation (PIGV), brachydactyly-hypertension/Bilginturan
      syndrome (PDE3A), Temtamy preaxial brachydactyly (CHSY1), Rubinstein-Taybi syndrome
      (CREBBP, EP300), Coffin-Siris syndrome and the BAF-complex genes (ARID1B, SMARCB1,
      SMARCA4, SMARCE1), Feingold syndrome (MYCN), hand-foot-genital syndrome (HOXA13),
      Catel-Manzke syndrome (TGDS), DOORS syndrome (TBC1D24), and the trichorhinophalangeal
      dysplasias types 1-3 with Langer-Giedion syndrome (TRPS1, EXT1), which the 2023
      revision moved here from group 17. The 2019 group-38 member "Pseudohypoparathyroidism
      type IA" (GNAS) is NOT here in 2023: the same entity (OMIM 103580) was renamed
      Albright hereditary osteodystrophy and moved to group 17. Was group 38 in the
      2019 revision.'
    structured_aliases:
    - literal_form: Brachydactylies (with extraskeletal manifestations)
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 38.
      source: PMID:31633310
  bent_bone_dysplasia:
    text: bent_bone_dysplasia
    description: 'Group 20 (2023 revision): Bent bones dysplasia group. Disorders
      sharing the radiographic sign of bent (angulated) long bones — campomelic dysplasia
      (SOX9), Stuve-Wiedemann dysplasia (LIFR), kyphomelic dysplasia, bent bone dysplasia
      FGFR2 type. Renamed in the 2019 revision from "Campomelic dysplasia and related
      disorders". Was group 18 in the 2019 revision.'
    structured_aliases:
    - literal_form: Bent bone dysplasia group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 18.
      source: PMID:31633310
  primordial_dwarfism_and_slender_bones:
    text: primordial_dwarfism_and_slender_bones
    description: 'Group 21 (2023 revision): Primordial dwarfism and slender bone dysplasias.
      Severe pre- and postnatal growth restriction with gracile tubular bones. Thirty-five
      rows, NOS 21-0010 through NOS 21-0350: 3-M syndrome (CUL7, OBSL1, CCDC8); Sanjad-Sakati
      syndrome (TBCE); dominant Kenny-Caffey syndrome and osteocraniostenosis (both
      FAM111A); Hallermann-Streiff syndrome; microcephalic osteodysplastic primordial
      dwarfism across RNU4ATAC, PCNT, ATR, RBBP8, CEP152, DNA2, TRAIP, NSMCE2, CENPE,
      CRIPT, XRCC4 and DONSON; Roifman syndrome (RNU4ATAC); IMAGe syndrome (CDKN1C)
      and IMAGe/FILS syndrome (POLE); Saul-Wilson syndrome (COG4); the SCUBE3 short
      stature-facial dysmorphism-skeletal and dental anomalies syndrome; and the ear-patella-primordial
      short stature (Meier-Gorlin) syndrome across its pre-replication-complex genes
      (ORC1, ORC4, ORC6, CDT1, CDC6, GMNN, CDC45, MCM3/5/7, GINS2) - which belongs
      here and NOT in group 37, patellar dysostoses, despite the "ear-patella" in
      its name. Two consequences of the 2023 dyadic renaming are easy to miss here.
      First, Seckel syndrome does not appear in the table under that name: its six
      rows were rewritten as "Microcephalic osteodysplastic primordial dwarfism, <GENE>-related"
      and are identifiable only by gene and OMIM number - ATR (210600, SCKL1), RBBP8
      (606744, SCKL2), CEP152 (613823, SCKL5), DNA2 (615807, SCKL8), TRAIP (616777,
      SCKL9) and NSMCE2 (617253, SCKL10). Searching the table for "Seckel" therefore
      returns nothing, which is a naming artefact and not an exclusion; the same applies
      to the XRCC4 row (616541), which is the entity published as short stature, microcephaly
      and endocrine dysfunction (SSMED). Second, Lowry-Wood syndrome is no longer
      in this group: the 2019 revision listed it here, and the 2023 revision moved
      it to group 9 as NOS 09-0110 "Multiple epiphyseal dysplasia with microcephaly
      and nystagmus (Lowry-Wood syndrome), RNU4ATAC-related" (OMIM 226960), so RNU4ATAC
      spans two groups and gene identity does not settle placement for its three phenotypes.
      Renamed in the 2019 revision from "Slender bone dysplasia group". Was group
      19 in the 2019 revision.'
    structured_aliases:
    - literal_form: Primordial dwarfism and slender bones group
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        19.
      source: PMID:31633310
  lysosomal_storage_with_skeletal_involvement:
    text: lysosomal_storage_with_skeletal_involvement
    description: 'Group 22 (2023 revision): Lysosomal Storage Diseases with Skeletal
      Involvement. Mucopolysaccharidoses (types 1-4, 6 and 7, plus VPS33A-related
      MPS-plus syndrome), mucolipidoses II and III, oligosaccharidoses (fucosidosis,
      alpha- and beta-mannosidosis, aspartylglucosaminuria, sialidosis, galactosialidosis),
      sialic acid storage disease, GM1 gangliosidosis, multiple sulfatase deficiency.
      Was group 27 in the 2019 revision.'
    structured_aliases:
    - literal_form: Lysosomal storage diseases with skeletal involvement (dysostosis
        multiplex group)
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 27.
      source: PMID:31633310
  chondrodysplasia_punctata:
    text: chondrodysplasia_punctata
    description: 'Group 23 (2023 revision): Chondrodysplasia punctata (CDP) group.
      Disorders with epiphyseal stippling — X-linked dominant Conradi-Hunermann CDPX2
      (EBP) and X-linked recessive brachytelephalangic CDPX1 (ARSE/ARSL), rhizomelic
      CDP (PEX7, GNPAT, AGPS, FAR1, PEX5), CHILD syndrome (NSDHL), Greenberg dysplasia
      (LBR), Keutel syndrome (MGP). Was group 21 in the 2019 revision.'
    structured_aliases:
    - literal_form: Chondrodysplasia punctata (CDP) group
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        21.
      source: PMID:31633310
  osteopetrosis_and_related:
    text: osteopetrosis_and_related
    description: 'Group 24 (2023 revision): Osteopetrosis and related osteoclast disorders.
      Osteoclast failure with defective bone resorption — infantile and intermediate
      osteopetrosis (TCIRG1, CLCN7, OSTM1, SNX10, TNFSF11, TNFRSF11A, PLEKHM1), late-onset
      (Albers-Schonberg) osteopetrosis, osteopetrosis with renal tubular acidosis
      (CA2), syndromic forms with ectodermal dysplasia/immune defect (IKBKG) or defective
      leucocyte adhesion (FERMT3), osteosclerotic metaphyseal dysplasia (LRRK1), pycnodysostosis
      (CTSK), dysosteosclerosis. Was group 23 in the 2019 revision.'
    structured_aliases:
    - literal_form: Osteopetrosis and related disorders
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 23.
      source: PMID:31633310
  osteosclerotic_disorders:
    text: osteosclerotic_disorders
    description: 'Group 25 (2023 revision): Osteosclerotic disorders. Non-osteopetrotic
      increased bone mass or density, formed in the 2023 revision by fusing the former
      Neonatal osteosclerotic dysplasias and Other sclerosing bone disorders groups
      - osteopoikilosis and melorheostosis (LEMD3, MAP2K1), osteopathia striata with
      cranial sclerosis (AMER1), sclerosteosis and van Buchem disease (SOST, LRP4),
      craniometaphyseal and craniodiaphyseal dysplasia, Camurati-Engelmann diaphyseal
      dysplasia (TGFB1), Raine dysplasia (FAM20C), Caffey disease, Pyle disease (SFRP4),
      Lenz-Majewski hyperostotic dysplasia (PTDSS1). Osteoclast-failure osteopetrosis
      stays in group 24, and the PTH1R-related Blomstrand dysplasia moved to group
      28. Has no single counterpart in the 2019 revision: it fuses two of them.'
  osteogenesis_imperfecta_and_decreased_bone_density:
    text: osteogenesis_imperfecta_and_decreased_bone_density
    description: 'Group 26 (2023 revision): Osteogenesis Imperfecta and bone fragility
      group. OI types 1-5 across the classical COL1A1/COL1A2 loci and the collagen
      chaperone/modification, WNT1, IFITM5, and SERPINF1 genes, plus non-OI low-bone-mass
      and bone-fragility conditions — X-linked and autosomal dominant osteoporosis,
      osteoporosis-pseudoglioma syndrome (LRP5), Bruck syndrome types 1 and 2, Cole-Carpenter
      dysplasia (P4HB, SEC24D), spondylo-ocular dysplasia (XYLT2), gnathodiaphyseal
      dysplasia (ANO5), geroderma osteodysplasticum, autosomal recessive cutis laxa
      types 2A and 2B, and the Wiedemann-Rautenstrauch and Singleton-Merten syndromes.
      The B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome that the 2019
      revision listed here moved to group 5, Dysplasias with multiple joint dislocations.
      Was group 25 in the 2019 revision.'
    structured_aliases:
    - literal_form: Osteogenesis Imperfecta and decreased bone density group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 25.
      source: PMID:31633310
  abnormal_mineralization:
    text: abnormal_mineralization
    description: 'Group 27 (2023 revision): Disorders of bone mineralisation. Disorders
      of the mineral/phosphate axis with skeletal consequences — hypophosphatasia
      (ALPL), X-linked and autosomal hypophosphatemic rickets (PHEX, FGF23, DMP1,
      ENPP1, CLCN5, SLC34A3), vitamin D-dependent rickets types 1A/1B/2A/2B (CYP27B1,
      CYP2R1, VDR), familial and neonatal hyperparathyroidism (CDC73, GCM2, CASR,
      TRPV6) and familial hypocalciuric hypercalcemia, and familial chondrocalcinosis
      / calcium pyrophosphate deposition disease type 2 (ANKH). Was group 26 in the
      2019 revision.'
    structured_aliases:
    - literal_form: Abnormal mineralization group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 26.
      source: PMID:31633310
  parathyroid_hormone_signaling:
    text: parathyroid_hormone_signaling
    description: 'Group 28 (2023 revision): Skeletal disorders of parathyroid hormone
      signaling cascade. New in 2023, collecting the PTH/PTHrP-axis conditions the
      2019 revision distributed across other groups. All six members, transcribed
      from the 2023 table: Jansen-type (PTH1R) and Csukasi-Krakow-type (SIK3) metaphyseal
      dysplasia, Blomstrand dysplasia (PTH1R), Eiken dysplasia (PTH1R), PTHLH-related
      brachydactyly type E2, and PTHLH-related osteolysis. Jansen and Eiken came from
      the 2019 metaphyseal group, Blomstrand from the 2019 neonatal osteosclerotic
      group. NOTE: despite the group''s name, no GNAS disorder belongs here - the
      2023 table places Albright hereditary osteodystrophy (GNAS) in group 17 and
      fibrous dysplasia/McCune-Albright and progressive osseous heteroplasia (GNAS)
      in group 30, and does not list pseudohypoparathyroidism under that name at all.
      Do not file PHP/PPHP entries here on mechanistic grounds. Has no counterpart
      in the 2019 revision.'
  osteolysis:
    text: osteolysis
    description: 'Group 29 (2023 revision): Osteolysis group. Progressive resorption
      of bone — familial expansile osteolysis (TNFRSF11A), multicentric osteolysis
      with nodulosis and arthropathy (MMP2, MMP14), multicentric carpal-tarsal osteolysis
      (MAFB), Hajdu-Cheney syndrome (NOTCH2), mandibuloacral dysplasia and Hutchinson-Gilford
      progeria (LMNA, ZMPSTE24). Was group 28 in the 2019 revision.'
    structured_aliases:
    - literal_form: Osteolysis group
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        28.
      source: PMID:31633310
  disorganized_development_of_skeletal_components:
    text: disorganized_development_of_skeletal_components
    description: 'Group 30 (2023 revision): Disorganized development of skeletal components
      group. Focal or mosaic disorganized bone and cartilage growth — multiple cartilaginous
      exostoses (EXT1, EXT2), enchondromatosis (Ollier) and Maffucci syndrome (IDH1,
      IDH2), metachondromatosis (PTPN11), cherubism (SH3BP2), polyostotic fibrous
      dysplasia / McCune-Albright syndrome (GNAS), fibrodysplasia ossificans progressiva
      (ACVR1), neurofibromatosis type 1, osteoglophonic dysplasia (FGFR1), Nasu-Hakola
      disease (TREM2, TYROBP), dysplasia epiphysealis hemimelica (Trevor), Gorham-Stout
      disease, osteofibrous dysplasia (MET). Was group 29 in the 2019 revision.'
    structured_aliases:
    - literal_form: Disorganized development of skeletal components group
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        29.
      source: PMID:31633310
  overgrowth_syndromes_with_skeletal_involvement:
    text: overgrowth_syndromes_with_skeletal_involvement
    description: 'Group 31 (2023 revision): Overgrowth (tall stature) syndromes and
      segmental overgrowth. Sotos (NSD1), Weaver (EZH2), Tatton-Brown-Rahman (DNMT3A),
      Luscan-Lumish (SETD2) and Marshall-Smith (NFIX) syndromes, Proteus syndrome
      (AKT1) and CLOVES (PIK3CA), Marfan syndrome (FBN1), congenital contractural
      arachnodactyly (FBN2), Loeys-Dietz syndrome types 1-6 (TGFBR1, TGFBR2, TGFB2,
      TGFB3, SMAD2, SMAD3), Simpson-Golabi-Behmel (GPC3) and Beckwith-Wiedemann (11p15
      imprinting) syndromes. The BGN-related Meester-Loeys syndrome is not listed
      here — the 2023 revision''s only BGN entry is SEMD Camera type in group 7, Proteoglycan
      core protein disorders. Was group 30 in the 2019 revision.'
    structured_aliases:
    - literal_form: Overgrowth (tall stature) syndromes with skeletal involvement
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 30.
      source: PMID:31633310
  genetic_inflammatory_rheumatoid_like_osteoarthropathies:
    text: genetic_inflammatory_rheumatoid_like_osteoarthropathies
    description: 'Group 32 (2023 revision): Genetic inflammatory or rheumatoid-like
      osteoarthropathies. Monogenic conditions mimicking inflammatory arthritis or
      osteomyelitis — progressive pseudorheumatoid dysplasia (WISP3/CCN6), CINCA/NOMID
      (NLRP3/CIAS1), deficiency of the IL-1 receptor antagonist (IL1RN), Majeed syndrome
      (LPIN2), hyaline fibromatosis syndrome (ANTXR2). Was group 31 in the 2019 revision.'
    structured_aliases:
    - literal_form: Genetic inflammatory/rheumatoid-like osteoarthropathies
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 31.
      source: PMID:31633310
  cleidocranial_dysplasia_and_related:
    text: cleidocranial_dysplasia_and_related
    description: 'Group 33 (2023 revision): Cleidocranial dysplasia and related disorders.
      Cleidocranial dysplasia (RUNX2), CDAGS syndrome, Yunis-Varon dysplasia (FIG4,
      VAC14), isolated parietal foramina (ALX4, MSX2) and parietal foramina with cleidocranial
      dysplasia. Was group 32 in the 2019 revision.'
    structured_aliases:
    - literal_form: Cleidocranial dysplasia and related disorders with maxillary hypoplasia
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 32.
      source: PMID:31633310
  craniosynostosis_syndromes:
    text: craniosynostosis_syndromes
    description: 'Group 34 (2023 revision): Syndromes featuring craniosynostosis.
      Syndromic premature suture fusion — Pfeiffer (FGFR1, FGFR2), Apert (FGFR2),
      Crouzon (FGFR2) and Beare-Stevenson cutis gyrata (FGFR2) syndromes, and the
      two FGFR3 entries that group 1 points here — Crouzon-like craniosynostosis with
      acanthosis nigricans (FGFR3) and Muenke-type craniosynostosis (FGFR3), which
      belong to this group and not to the FGFR3 chondrodysplasias. Also Saethre-Chotzen
      syndrome (TWIST1), Antley-Bixler syndrome (POR), Boston-type (MSX2), coronal
      (TCF12) and complex (ERF) craniosynostosis, Shprintzen-Goldberg syndrome (SKI),
      Baller-Gerold syndrome (RECQL4), Carpenter syndrome (RAB23, MEGF8). Was group
      33 in the 2019 revision.'
    structured_aliases:
    - literal_form: Craniosynostosis syndromes
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 33.
      source: PMID:31633310
  dysostoses_with_predominant_craniofacial_involvement:
    text: dysostoses_with_predominant_craniofacial_involvement
    description: 'Group 35 (2023 revision): Craniofacial Dysostoses. Mandibulofacial
      dysostoses (Treacher Collins — TCOF1, POLR1C, POLR1D; EFTUD2-related with microcephaly;
      EDNRA-related with alopecia), acrofacial dysostoses (Nager and Rodriguez — SF3B4;
      Miller — DHODH; Cincinnati — POLR1A), frontonasal dysplasias types 1-3 (ALX3,
      ALX4, ALX1), craniofrontonasal syndrome (EFNB1), acromelic frontonasal dysostosis
      (ZSWIM6), auriculocondylar syndrome (GNAI3, PLCB4, EDN1), Richieri-Costa-Pereira
      syndrome (EIF4A3), orofaciodigital syndrome type I (OFD1), Weyers acrofacial
      (acrodental) dysostosis (EVC1, EVC2), hemifacial microsomia. Was group 34 in
      the 2019 revision.'
    structured_aliases:
    - literal_form: Dysostoses with predominant craniofacial involvement
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 34.
      source: PMID:31633310
  dysostoses_with_predominant_vertebral_and_costal_involvement:
    text: dysostoses_with_predominant_vertebral_and_costal_involvement
    description: 'Group 36 (2023 revision): Vertebral and costal dysostoses. Spondylocostal
      dysostosis (DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2) and vertebral segmentation
      defects, Klippel-Feil syndrome (GDF6, MEOX1, GDF3, MYO18B), Currarino syndrome
      (MNX1), cerebrocostomandibular syndrome (SNRPB), NAD deficiency syndrome (HAAO,
      KYNU), diaphanospondylodysostosis (BMPER), spondylo-megaepiphyseal-metaphyseal
      dysplasia (NKX3-2). Was group 35 in the 2019 revision.'
    structured_aliases:
    - literal_form: Dysostoses with predominant vertebral with and without costal
        involvement
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 35.
      source: PMID:31633310
  patellar_dysostoses:
    text: patellar_dysostoses
    description: 'Group 37 (2023 revision): Patellar dysostoses. Ischiopatellar (small
      patella) dysplasia (TBX4), nail-patella syndrome (LMX1B), and genitopatellar
      syndrome (KAT6B). Despite its name, the ear-patella-primordial short stature
      (Meier-Gorlin) syndrome and its pre-replication-complex genes (ORC1, ORC4, ORC6,
      CDT1, CDC6, GMNN, CDC45, MCM3/5/7, GINS2) are NOT in this group: the 2023 revision
      lists them in group 21, Primordial dwarfism and slender bone dysplasias. The
      2019 revision called it "ear-patella-short stature syndrome" and did list it
      here, in the group''s 2019 predecessor — the inserted "primordial" is the rename
      that accompanied the move. Was group 36 in the 2019 revision.'
    structured_aliases:
    - literal_form: Patellar dysostoses
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        36.
      source: PMID:31633310
  limb_hypoplasia_reduction_defects:
    text: limb_hypoplasia_reduction_defects
    description: 'Group 38 (2023 revision): Limb hypoplasia - reduction defects group.
      Ulnar-mammary syndrome (TBX3), Holt-Oram syndrome (TBX5), Cornelia de Lange
      syndrome and the cohesinopathies (NIPBL, SMC1A, SMC3, RAD21, HDAC8), Fanconi
      anemia, thrombocytopenia-absent radius (RBM8A), Roberts syndrome (ESCO2), Okihiro/Duane-radial
      ray syndrome (SALL4), RAPADILINO syndrome (RECQL4), Adams-Oliver syndrome (ARHGAP31,
      DOCK6, NOTCH1, DLL4, RBPJ, EOGT), tibial hemimelia, acheiropodia (LMBR1) and
      tetra-amelia (WNT3, RSPO2), Al-Awadi/ Raas-Rothschild and Fuhrmann syndromes
      (WNT7A), Poland syndrome. Werner syndrome (tibial hemimelia with polysyndactyly
      and triphalangeal thumb) is here too, as a ZRS variant; ZRS is the limb-specific
      SHH enhancer inside LMBR1, so this group and group 40 both touch SHH regulation
      while listing different disorders. Was group 39 in the 2019 revision.'
    structured_aliases:
    - literal_form: Limb hypoplasia-reduction defects group
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 39.
      source: PMID:31633310
  ectrodactyly_with_and_without_other_manifestations:
    text: ectrodactyly_with_and_without_other_manifestations
    description: 'Group 39 (2023 revision): Split hand/foot with and without other
      manifestations. Split-hand/foot malformation and the ectrodactyly-ectodermal
      dysplasia-clefting spectrum — TP63-related EEC3, AEC, limb-mammary and SHFM4
      phenotypes, SHFM1 (DLX5, DLX6), the 10q24-duplication SHFM3 locus, SHFM6 (WNT10B),
      split-foot malformation with mesoaxial polydactyly (ZAK), EEM syndrome (CDH3),
      Hartsfield syndrome (FGFR1). Was group 40 in the 2019 revision.'
    structured_aliases:
    - literal_form: Ectrodactyly with and without other manifestations
      predicate: EXACT_SYNONYM
      description: Name of this group in the 2019 revision (10th edition), where it
        was group 40.
      source: PMID:31633310
  polydactyly_syndactyly_triphalangism:
    text: polydactyly_syndactyly_triphalangism
    description: 'Group 40 (2023 revision): Polydactyly-Syndactyly-Triphalangism group.
      Preaxial polydactyly types 1-4 and the SHH/ZRS limb enhancer, GLI3-related Greig
      cephalopolysyndactyly and Pallister-Hall syndromes, synpolydactyly (HOXD13,
      FBLN1), Townes-Brocks syndrome (SALL1), syndactyly types 1-5 and Cenani-Lenz
      syndactyly (LRP4), Laurin-Sandrow mirror-image polydactyly, acrocallosal syndrome
      (KIF7), Filippi syndrome (CKAP2L), STAR syndrome (FAM58A), Meckel syndrome types
      1-6, LADD syndrome (FGFR2, FGFR3, FGF10). Was group 41 in the 2019 revision.'
    structured_aliases:
    - literal_form: Polydactyly-Syndactyly-Triphalangism group
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        41.
      source: PMID:31633310
  defects_in_joint_formation_and_synostoses:
    text: defects_in_joint_formation_and_synostoses
    description: 'Group 41 (2023 revision): Defects in joint formation and synostoses.
      Multiple synostoses syndrome (NOG, GDF5, FGF9, GDF6), radio-ulnar synostosis
      with amegakaryocytic thrombocytopenia (HOXA11, MECOM), Liebenberg syndrome (PITX1),
      SAMS syndrome (GSC). Was group 42 in the 2019 revision.'
    structured_aliases:
    - literal_form: Defects in joint formation and synostoses
      predicate: EXACT_SYNONYM
      description: Same name in the 2019 revision (10th edition), where it was group
        42.
      source: PMID:31633310
  perlecan:
    text: perlecan
    description: DEPRECATED - HSPG2 (perlecan) disorders — dyssegmental dysplasia
      (Silverman-Handmaker and Rolland-Desbuquois types) and Schwartz-Jampel syndrome
      (myotonic chondrodystrophy).
    deprecated: Group 5 "Perlecan group" of the 2019 revision (PMID:31633310). The
      2023 revision (PMID:36779427) dissolved it into the new group 7 "Proteoglycan
      core proteins disorders", which also absorbed the former Aggrecan group. Retained
      so existing assignments remain resolvable; do not use for new curation.
    deprecated_element_has_possible_replacement: proteoglycan_core_protein_disorders
    structured_aliases:
    - literal_form: Perlecan group
      predicate: EXACT_SYNONYM
      source: PMID:31633310
  aggrecan:
    text: aggrecan
    description: DEPRECATED - ACAN disorders — SED Kimberley type, SEMD aggrecan type,
      and short stature with advanced bone age.
    deprecated: Group 6 "Aggrecan group" of the 2019 revision (PMID:31633310). The
      2023 revision (PMID:36779427) dissolved it into the new group 7 "Proteoglycan
      core proteins disorders", which also absorbed the former Perlecan group. Retained
      so existing assignments remain resolvable; do not use for new curation.
    deprecated_element_has_possible_replacement: proteoglycan_core_protein_disorders
    structured_aliases:
    - literal_form: Aggrecan group
      predicate: EXACT_SYNONYM
      source: PMID:31633310
  neonatal_osteosclerotic_dysplasias:
    text: neonatal_osteosclerotic_dysplasias
    description: DEPRECATED - Increased bone density presenting at birth or in early
      infancy — Blomstrand dysplasia (PTH1R), desmosterolosis (DHCR24), Caffey disease
      (COL1A1), Raine dysplasia (FAM20C), Al-Gazali-type dysplastic cortical hyperostosis.
    deprecated: Group 22 "Neonatal osteosclerotic dysplasias" of the 2019 revision
      (PMID:31633310). The 2023 revision (PMID:36779427) dissolved it into the fused
      group 25 "Osteosclerotic disorders", which also absorbed the former Other sclerosing
      bone disorders group. Retained so existing assignments remain resolvable; do
      not use for new curation.
    deprecated_element_has_possible_replacement: osteosclerotic_disorders
    structured_aliases:
    - literal_form: Neonatal osteosclerotic dysplasias
      predicate: EXACT_SYNONYM
      source: PMID:31633310
  other_sclerosing_bone_disorders:
    text: other_sclerosing_bone_disorders
    description: DEPRECATED - Increased bone mass or density from mechanisms other
      than osteoclast failure — osteopoikilosis and melorheostosis (LEMD3, MAP2K1),
      osteopathia striata with cranial sclerosis (AMER1), sclerosteosis and van Buchem
      disease (SOST, LRP4), craniometaphyseal dysplasia (ANKH, GJA1) and craniodiaphyseal
      dysplasia (SOST), Camurati-Engelmann diaphyseal dysplasia (TGFB1), hyperostosis-hyperphosphatemia
      syndrome (GALNT3, FGF23, KL), high-bone-mass LRP5 phenotypes, juvenile Paget
      disease (TNFRSF11B), Pyle disease (SFRP4), Lenz-Majewski hyperostotic dysplasia
      (PTDSS1), oculodentoosseous dysplasia (GJA1), Ghosal hematodiaphyseal dysplasia,
      hypertrophic osteoarthropathy.
    deprecated: Group 24 "Other sclerosing bone disorders" of the 2019 revision (PMID:31633310).
      The 2023 revision (PMID:36779427) dissolved it into the fused group 25 "Osteosclerotic
      disorders", which also absorbed the former Neonatal osteosclerotic dysplasias
      group. Retained so existing assignments remain resolvable; do not use for new
      curation.
    deprecated_element_has_possible_replacement: osteosclerotic_disorders
    structured_aliases:
    - literal_form: Other sclerosing bone disorders
      predicate: EXACT_SYNONYM
      source: PMID:31633310