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Gene: Ttc28 MGI:2140873

Gene Summary

Name:

tetratricopeptide repeat domain 28

Synonyms:

TPRBK, 2310015L07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased red blood cell distribution width	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.11×10^-14
abnormal cranium morphology	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.41×10^-12
short tibia	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.56×10^-12
vertebral fusion	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.24×10^-12
decreased bone mineral density	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.64×10^-05
abnormal vertebrae morphology	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.24×10^-12
increased grip strength	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.34×10^-12
decreased prepulse inhibition	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.17×10^-06
abnormal pelvic girdle bone morphology	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.69×10^-10
preweaning lethality, incomplete penetrance	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.57×10^-06
decreased circulating HDL cholesterol level	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.69×10^-12
decreased circulating cholesterol level	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.92×10^-08
decreased body length	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.72×10^-10
increased lymphocyte cell number	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.67×10^-05
increased leukocyte cell number	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.85×10^-06
abnormal maxilla morphology	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
abnormal zygomatic bone morphology	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.24×10^-12

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

11 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Histopathology

Images

6 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Human diseases caused by Ttc28 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ttc28 (0 diseases)
Human diseases predicted to be associated with Ttc28 (522 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ttc28 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Congenital hip dislocation, Flattened femoral head, Delayed skeletal maturation, De...	ORPHA:168621
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Anemia, Bone pain, Erlenmeyer flask deformity of the femurs, Splenomegaly, Thrombocyt...	OMIM:610539
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Stillbirth, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypopla...	OMIM:200700
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir...	ORPHA:766
Leri-Weill Dyschondrosteosis	Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi...	OMIM:127300
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ...	OMIM:113000
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul...	ORPHA:750
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Otopalatodigital Syndrome Type 1	Abnormal metacarpal morphology, Proximal placement of thumb, Sandal gap, Short hallux, Increased ...	ORPHA:90650
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os...	OMIM:156510
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda...	ORPHA:337
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl...	OMIM:615631
Orofaciodigital Syndrome Type 10	Retrognathia, Fibular aplasia, Tarsal synostosis, Mesomelic arm shortening, Preaxial polydactyly,...	ORPHA:2756
Eiken Syndrome	Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ...	ORPHA:79106
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho...	ORPHA:2779
Atelosteogenesis, Type Ii	Sandal gap, Short greater sciatic notch, Bifid humerus, Flat acetabular roof, Dumbbell-shaped fem...	OMIM:256050
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Retrognathia, Camptodactyly, Micrognathia, Anisocytosis, Flexion contracture	OMIM:604273
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve...	OMIM:250460
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Aarskog-Scott Syndrome	Talipes, Clinodactyly of the 5th finger, Delayed eruption of teeth, Genu recurvatum, Finger synda...	ORPHA:915
Slc35A2-Cdg	Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis...	ORPHA:356961
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Microphthalmia With Limb Anomalies	Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, H...	ORPHA:1106
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped...	ORPHA:485
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentra...	OMIM:606612
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ...	ORPHA:3320
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Developmental And Speech Delay Due To Sox5 Deficiency	Butterfly vertebrae, Scoliosis, 2-3 toe syndactyly, Thoracic kyphoscoliosis, Lumbar hyperlordosis...	ORPHA:313892
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s...	OMIM:610017
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion	OMIM:618845
Bent Bone Dysplasia Syndrome 2	Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic...	OMIM:620076
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Micrognathia, Sh...	ORPHA:2522
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,...	ORPHA:429
Dominant Beta-Thalassemia	Genu valgum, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpu...	ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce...	OMIM:224120
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit...	OMIM:610967
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Short neck, Abno...	ORPHA:66637
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ...	ORPHA:1159
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor...	ORPHA:2916
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology	OMIM:259270
Verheij Syndrome	Retrognathia, Scoliosis, Hemivertebrae, Short neck, Vertebral fusion, Joint hypermobility, Short ...	OMIM:615583
Squalene Synthase Deficiency	Retrognathia, Slender long bone, 2-3 toe syndactyly, Elbow flexion contracture, Increased circula...	OMIM:618156
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
Potocki-Lupski Syndrome	Scoliosis, Mandibular prognathia, Hypocholesterolemia, Micrognathia, Dental malocclusion	OMIM:610883
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia...	OMIM:108720
Spondylocarpotarsal Synostosis Syndrome	Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis, Bowed humerus, S...	OMIM:272460
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Accelerated s...	ORPHA:950
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte...	OMIM:618469
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Metacarpal osteolysis, Pes cavus, Wrist swelling, Osteopenia, Carpal osteolysis, ...	OMIM:166300
Atelosteogenesis Type Iii	Short tubular bones of the hand, Abnormal cervical curvature, Absent radius, Patellar dislocation...	ORPHA:56305
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Acromelia, Per...	ORPHA:763
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria...	ORPHA:370010
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo...	OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi...	OMIM:300908
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly, Short neck...	OMIM:244600
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip...	OMIM:178110
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Delayed skeletal maturation, Absent thumb, Aplasia/Hy...	OMIM:612447
Femoral-Facial Syndrome	Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone...	ORPHA:1988
Hypophosphatemic Rickets, X-Linked Dominant	Tibial bowing, Femoral bowing, Hypophosphatemia, Enamel hypomineralization, Metaphyseal irregular...	OMIM:307800
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentra...	OMIM:607155
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac...	ORPHA:1436
Kbg Syndrome	Finger clinodactyly, Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed s...	ORPHA:2332
Multiple Pterygium Syndrome, X-Linked	Short finger, Multiple pterygia, Joint dislocation, Micrognathia, Abnormal cervical curvature, Fl...	OMIM:312150
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Delayed skeletal maturation, Hypoalbuminemia, Splenomegaly, Short neck, Hypocholesterol...	OMIM:608776
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy...	ORPHA:166016
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o...	OMIM:135100
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Ring Chromosome 21 Syndrome	Scoliosis, Syndactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Clinodactyly, Small hand	ORPHA:1445
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Maxillonasal Dysplasia	Patchy distortion of vertebrae, Mandibular prognathia, Scoliosis, Vertebral clefting, Hypoplasia ...	ORPHA:1248
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Sac...	OMIM:201000
Spondylocostal Dysostosis 5	Butterfly vertebrae, Scoliosis, Hemivertebrae, Missing ribs, Low back pain, Short neck, Vertebral...	OMIM:122600
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Multiple Pterygium Syndrome, Lethal Type	Short finger, Multiple pterygia, Joint dislocation, Micrognathia, Abnormal cervical curvature, Fl...	OMIM:253290
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U...	OMIM:616300
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Accelerated skeletal maturation, Joint hypermobility, Cone-sh...	ORPHA:439822
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Generalized joint hypermobility, Hammertoe, Cervical C2/C3 vertebral fusion, Hallux v...	OMIM:618000
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur...	ORPHA:1427
Geroderma Osteodysplasticum	Kyphoscoliosis, Osteopenia, Beaking of vertebral bodies, Vertebral compression fracture, Hyperext...	OMIM:231070
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, ...	OMIM:607143
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Delay...	OMIM:608154
Chromosome 8Q22.1 Duplication Syndrome	Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Li...	OMIM:151200
Greenberg Dysplasia	Retrognathia, Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multip...	OMIM:215140
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Intervertebral space narrowing, Scoliosis, Mandibular prognathia, Hypopl...	OMIM:601216
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Cohen Syndrome	Genu valgum, Cubitus valgus, Short metatarsal, Tapered finger, Short metacarpal, Hypoplasia of th...	OMIM:216550
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Omodysplasia 1	Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,...	OMIM:258315
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h...	ORPHA:90652
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Knee dislocation, Short metacarpal, Dislocat...	OMIM:150250
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret...	ORPHA:71275
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Intermediate Osteopetrosis	Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f...	ORPHA:210110
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Flared metaphysis, Generalized osteosclerosis, Short r...	OMIM:215045
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Calvarial hyperostosis, Kyp...	OMIM:112350
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology...	ORPHA:1798
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero...	OMIM:144750
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Malar flattening, Hy...	OMIM:266510
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Micrognathia, Flexion contracture, Acet...	OMIM:616549
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho...	OMIM:309620
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia of the maxilla...	ORPHA:90653
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Brachydact...	OMIM:258860
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple...	ORPHA:363417
Jackson-Weiss Syndrome	Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, 2-3 toe syndactyly, Broad me...	ORPHA:1540
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
Acromesomelic Dysplasia, Hunter-Thompson Type	Tarsal synostosis, Abnormally shaped carpal bones, Scoliosis, Cuboidal metacarpal, Abnormal pelvi...	ORPHA:968
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy...	ORPHA:96334
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis	ORPHA:2776
Cleidocranial Dysplasia	Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal sacrum morpholog...	ORPHA:1452
Alg12-Cdg	Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g...	ORPHA:79324
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Short metacarpal, Delayed skeletal maturation...	OMIM:170390
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal...	ORPHA:79345
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Talipes calcane...	OMIM:265000
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Hip dysplasia	ORPHA:530983
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat...	OMIM:616959
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno...	ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest...	OMIM:615558
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr...	ORPHA:1826
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Epiphyseal stippling, Scoliosis, Stippled calcification proximal humeral ...	OMIM:222765
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,...	ORPHA:457395
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Fused cervical vertebrae, Elevated circulating C-reactive protein concen...	OMIM:612852
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s...	OMIM:613686
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Delayed skeletal maturation, Decreased HDL cholesterol concentration, Decreased LDL cholesterol c...	OMIM:616834
Congenital Erythropoietic Porphyria	Osteopenia, Erythrodontia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Ge...	OMIM:607634
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T...	ORPHA:93356
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F...	ORPHA:3329
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Calvarial hyperostosi...	OMIM:101800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim...	OMIM:600785
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Craniometaphyseal Dysplasia, Autosomal Dominant	Cranial hyperostosis, Calvarial osteosclerosis, Flared metaphysis, Abnormality of the vertebral c...	OMIM:123000
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext...	ORPHA:239
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Kniest Dysplasia	Tibial bowing, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped femur, Genu varum, ...	OMIM:156550
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Scoliosis, Vertebral segmentation defect, Kyphosis, Arachnodac...	ORPHA:96169
Lateral Meningocele Syndrome	Scoliosis, Wormian bones, Kyphosis, Biconcave vertebral bodies, Micrognathia, Malar flattening, S...	OMIM:130720
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D...	OMIM:620099
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abnormal pelvic gird...	ORPHA:3027
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina...	ORPHA:1724
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Joint hypermobility,...	ORPHA:198
Abetalipoproteinemia	Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Osteopenia, Decreased HDL cholester...	ORPHA:14
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Plantar pits, Kyphoscoliosis, Vertebral wedging, Mandibular pr...	OMIM:109400
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial...	ORPHA:314795
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Micrognathia, Neonatal death, Hypocholesterolemia	OMIM:618810
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Taurodontia, Postaxial hand polydactyly, Talo...	ORPHA:2751
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Butterfly vertebrae, Rudimentary fibula, Finger...	ORPHA:958
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxilla, Cone-shap...	ORPHA:397973
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Abnormal vertebral morphology, Anemia, Elevated circulating C-rea...	ORPHA:324964
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Hypoplasia of the m...	ORPHA:2662
Myhre Syndrome	Short finger, Radial deviation of finger, Enlarged vertebral pedicles, Hypoplastic iliac wing, Ma...	OMIM:139210
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Abetalipoprote...	ORPHA:96180
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, ...	OMIM:166250
Hypocalcemic Vitamin D-Dependent Rickets	Tibial bowing, Femoral bowing, Hypophosphatemia, Splenomegaly, Genu varum, Rickets, Hypocalcemia,...	ORPHA:289157
Lujan-Fryns Syndrome	Scoliosis, Hypoplasia of the maxilla, Arachnodactyly, Micrognathia, Camptodactyly of finger, Brac...	ORPHA:776
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Abnormal vertebral segmentation and fusio...	OMIM:118100
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Short palm, Clinodactyly, Camptodactyly of finger, Tapered finger, Tal...	ORPHA:85279
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Scoliosis, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion	OMIM:214300
Grant Syndrome	Abnormal cortical bone morphology, Joint dislocation, Wormian bones, Abnormal pelvic girdle bone ...	ORPHA:2097
Dislocation Of The Hip-Dysmorphism Syndrome	Congenital hip dislocation, Deviation of finger, Malar flattening, Abnormality of the knee, Joint...	ORPHA:2412
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Talipes, Radial club hand, Sandal gap, Short h...	ORPHA:959
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Hypoplasia of the maxilla,...	ORPHA:93262
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Camptodactyly, Split hand, Microretrognathia	OMIM:246560
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Sacral dimple, Craniosynostosis, Hyperextensibility of the finger jo...	OMIM:213980
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Hyperlordosis, Synostos...	ORPHA:710
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Paget disease of bone, Elevated circulating creatine kinase concentration, Abnormal pelvic girdle...	OMIM:167320
Craniofacial-Deafness-Hand Syndrome	Abnormality of the wrist, Hypoplasia of the maxilla, Camptodactyly of finger, Ulnar deviation of ...	ORPHA:1529
Vitamin D-Dependent Rickets, Type 2A	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin...	OMIM:277440
Cartilage-Hair Hypoplasia	Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macr...	OMIM:250250
Immunodeficiency 27A	Anemia, Salmonella osteomyelitis, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegal...	OMIM:209950
Autosomal Recessive Hypophosphatemic Rickets	Polyarticular arthritis, Tibial bowing, Craniosynostosis, Renal hypophosphatemia, Genu varum, Ric...	ORPHA:289176
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Martsolf Syndrome 1	Talipes valgus, Slender ulna, Talipes equinovarus, Tracheomalacia, Short metacarpal, Osteopathia ...	OMIM:212720
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto...	OMIM:308240
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Scoliosis, Accelerated skeletal ...	OMIM:614753
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Tibial bowing, Femoral bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin...	OMIM:264700
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Scoliosis, Prominent fingertip pads, Kyphosis, Slender finger, ...	OMIM:610443
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Mandibular prognathia, Scoliosis, Hemivertebrae...	ORPHA:377
Osteogenesis Imperfecta, Type Iii	Slender long bone, Scoliosis, Tibial bowing, Kyphosis, Biconcave vertebral bodies, Multiple prena...	OMIM:259420
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Poikilo...	OMIM:618278
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Abn...	ORPHA:93160
Codas Syndrome	Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo...	ORPHA:1458
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:600081
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Retrognathia, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radi...	OMIM:227270
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Long foot, Mandibular prognathia, Scoliosis, Kyphosis, Hypoplasia of the maxilla	OMIM:300676
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Retrognathia, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus...	OMIM:206920
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,...	OMIM:184460
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Steatorrhea, Kyphosis, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Thr...	OMIM:212065
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Shor...	OMIM:620306
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Erupti...	OMIM:600002
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir...	ORPHA:1788
Coxopodopatellar Syndrome	Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne...	ORPHA:1509
Saul-Wilson Syndrome	Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t...	OMIM:618150
Sillence Syndrome	Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Aarskog-Scott Syndrome	Radial deviation of finger, Hyperextensibility of the finger joints, Scoliosis, Short foot, Hypop...	OMIM:305400
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Hypophosphatemia, Pathologic fracture, Osteolysis, Increased circulati...	ORPHA:249
Frontonasal Dysplasia 1	Radial deviation of finger, Postaxial hand polydactyly, Camptodactyly, Hypoplastic frontal sinuse...	OMIM:136760
Cohen Syndrome	Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal gap, Cubitus va...	ORPHA:193
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Kaufman Oculocerebrofacial Syndrome	Clinodactyly of the 5th finger, Congenital hip dislocation, Metatarsus adductus, Carious teeth, M...	OMIM:244450
Shashi-Pena Syndrome	Retrognathia, Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Kyphosis, Osteoporosi...	OMIM:617190
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu...	OMIM:164900
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Dubowitz Syndrome	Aplastic anemia, Sacral dimple, Clinodactyly of the 5th finger, Delayed eruption of teeth, Hypoch...	OMIM:223370
Nager Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormality of th...	ORPHA:245
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Short neck, Absent thumb, Short thumb, Short ...	OMIM:609053
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Femoral bowing, Shor...	OMIM:613091
Coffin-Lowry Syndrome	Broad finger, Advanced eruption of teeth, Abnormal diaphysis morphology, Craniofacial hyperostosi...	ORPHA:192
Van Maldergem Syndrome 1	Osteopenia, Short 4th metacarpal, Abnormal foot morphology, Sacral dimple, Tracheomalacia, Short ...	OMIM:601390
Camurati-Engelmann Disease	Abnormal femur morphology, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Craniofacial osteos...	ORPHA:1328
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Trism...	OMIM:227330
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Delayed skeletal maturation, Flexion contracture of finger, Short di...	OMIM:601812
Meier-Gorlin Syndrome 1	Absent sternal ossification, Short ribs, Delayed skeletal maturation, Joint hypermobility, Genu v...	OMIM:224690
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Scoliosis, Wo...	OMIM:252100
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl...	OMIM:101600
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Scoliosis, 2-3 toe syndactyly, Hypoplasia of the maxilla, Long fingers, Flexion contracture, Tape...	OMIM:218000
Seckel Syndrome 1	Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Disloc...	OMIM:210600
Moebius Syndrome	Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar...	OMIM:157900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Short 5th finger, Overlapping toe, Hip dislocation, Short palm, Aplasia/Hypoplasia o...	ORPHA:508498
Simpson-Golabi-Behmel Syndrome	Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Mandibular prognathia, Scoli...	ORPHA:373
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T...	OMIM:147750
Chylomicron Retention Disease	Hypocholesterolemia, Acanthocytosis, Steatorrhea	ORPHA:71
Apert Syndrome	Limited elbow movement, Broad thumb, Syndactyly, Craniosynostosis, Postaxial hand polydactyly, Ma...	OMIM:101200
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia	OMIM:601809
Osteogenesis Imperfecta, Type Viii	Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio...	OMIM:610915
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Broad thumb, Broad hallux phalanx, Malar flattening	ORPHA:261295
Van Den Ende-Gupta Syndrome	Narrow foot, Dislocated radial head, Short ribs, Femoral bowing, Arachnodactyly, Slender metacarp...	OMIM:600920
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Van Maldergem Syndrome 2	Osteopenia, Short 4th metacarpal, Hip subluxation, Sacral dimple, Tracheomalacia, Short clavicles...	OMIM:615546
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormality of the vertebral column, Hypoplasia of the maxilla, Malar flattening, Coxa valga, Hip...	OMIM:109120
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Increased laxity of ankles, Hypoplasia of the maxilla, Arachnodactyly, B...	ORPHA:481152
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ...	OMIM:203500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Hypoplasia of the maxilla, Micrognathia, Long fingers, Limb undergr...	OMIM:608149
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio...	OMIM:302960
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Short long bone, Tibial bowing, Short metacarpal, J...	OMIM:608940
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Kyphosis, Delayed skeletal maturation, Craniofacial asymme...	OMIM:194190
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Delayed eruption of teeth, 4-5 fin...	OMIM:257850
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo...	ORPHA:140
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Vertebral compression fracture, Platyspondyl...	OMIM:613848
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat...	OMIM:143095
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Ulnar deviation of...	OMIM:148050
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu...	ORPHA:233
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Talipes equinovarus, Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly	OMIM:617333
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Recon Progeroid Syndrome	Anemia, Proximal placement of thumb, Arachnodactyly, Thrombocytopenia, Joint hypermobility, Delay...	OMIM:620370
Shprintzen-Goldberg Syndrome	Abnormal metaphysis morphology, Retrognathia, Osteopenia, Genu valgum, Abnormal form of the verte...	ORPHA:2462
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Splenomegaly, Overlapping toe, Hypocholesterolemia, Talipes calcaneo...	OMIM:270400
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Fuse...	OMIM:607323
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Aredyld Syndrome	Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu...	ORPHA:1133
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Delayed skeletal maturation, Short distal ph...	OMIM:210720
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Delayed eruption of teeth, Finger syndactyly, Mandibular prognat...	ORPHA:87
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Mandibular prognathia, Hypoplasia of the maxilla, Hyponatremia, Micrognathia, Malar...	OMIM:620157
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus...	OMIM:119800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ...	OMIM:263520
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Supernumerary tooth, Limitation of joint mobility, Carious teeth, Micrognathia, Hypoplasia of the...	ORPHA:3145
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Hip subluxation, Osteopetrosis, Cranial hyperostosis, Anemia, Hypochromic microcytic ...	OMIM:259720
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Avascular necrosis, Increased mean corpuscular ...	ORPHA:232
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Limitation of joint mobility, Hypoplasia of the maxilla, Camptodac...	ORPHA:178303
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu valgum, Craniosynostosis, Dislocated radial head, Genu recurvatum, Scoliosis, C1...	OMIM:182212
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Scoliosis, Decreased skull ossification, Hypoplasia of the maxilla, Ca...	ORPHA:50814
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Kyphoscoliosis, Butterfly vertebrae, Hemiverteb...	OMIM:200980
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Abnormal vertebr...	ORPHA:352540
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Scoliosis, Hemivertebrae, Short ribs, Missing ribs, Block vertebrae, Short neck, Supernumerary ve...	OMIM:271520
Antley-Bixler Syndrome	Talipes, Delayed cranial suture closure, Femoral bowing, Joint stiffness, Camptodactyly of finger...	ORPHA:83
Robinow Syndrome	Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Scoliosis, Hemivertebrae, Marked delay i...	ORPHA:97360
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Crumpled long bones, Wormian bones, Tibial bowing, Abnormal pelv...	OMIM:166210
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Prominent fingertip pads, Kyphosis, Accelera...	OMIM:602535
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, 2-3 toe syndactyly, Scoliosis, Persiste...	ORPHA:37553
Aicardi Syndrome	Butterfly vertebrae, Scoliosis, Missing ribs, Block vertebrae, Hip dysplasia, Prominence of the p...	ORPHA:50
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Limited elbow movement, Limitation of knee mobility, Abnormal hand morphology, Arac...	ORPHA:319171
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Hyperbilirubinemia, Elevated circulating long chain fatty acid...	OMIM:614886
Prolidase Deficiency	Genu valgum, Reduced bone mineral density, Abnormal hip bone morphology, Carious teeth, Micrognat...	ORPHA:742
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Wildervanck Syndrome	Short neck, Fused cervical vertebrae	ORPHA:3456
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Pes planus	OMIM:618302
Acute Monoblastic/Monocytic Leukemia	Ankle swelling, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
3Mc Syndrome 2	Limited elbow movement, Caudal appendage, Abnormal vertebral morphology, Abnormality of the verte...	OMIM:265050
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Leukocytosi...	ORPHA:2307
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93950
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short femoral neck, Wormian bone...	OMIM:617159
Saethre-Chotzen Syndrome	Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal form of the vertebral bodies, Finge...	ORPHA:794
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cubitus valgus, Talipes calcaneovarus, Mandibular prognathia, Hypoplasia of the maxilla, Microgna...	OMIM:300534
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, Widely patent coronal suture, Talon cusp, Osteoporosis, Hypoplasia of t...	ORPHA:2409
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Trac...	OMIM:114290
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Multiple suture craniosynostosis	ORPHA:207
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Hyposegmentation of neutrophil nuclei, Delayed skeletal maturation, Broad...	OMIM:614800
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphys...	ORPHA:1667
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Postaxial polydactyly	OMIM:619142
Hajdu-Cheney Syndrome	Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Splen...	ORPHA:955
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Splenomegaly, Acute myelomono...	ORPHA:86843
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Anemia of inadequate p...	ORPHA:231222
Secondary Intestinal Lymphangiectasia	Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce...	ORPHA:90363
Meier-Gorlin Syndrome 5	Slender long bone, Prominent metopic ridge, Hypoplasia of the maxilla, Delayed skeletal maturatio...	OMIM:613805
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing...	OMIM:211350
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae	OMIM:619227
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Genu valgum, Abnormal metacarpal morphology, Joint stiffness, Brachydactyly, Short distal phalanx...	ORPHA:1295
Acrofacial Dysostosis, Catania Type	Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Carious teeth, Short pal...	ORPHA:1786
Holt-Oram Syndrome	Proximal placement of thumb, Cervical C2/C3 vertebral fusion, Aplasia of the 1st metacarpal, 1-2 ...	OMIM:142900
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Talipes equinovarus, Absent sternal ossification, Slender long bone, Aplasia...	OMIM:613803
Axial Mesodermal Dysplasia Spectrum	Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal pelvic ...	ORPHA:1834
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ...	ORPHA:3144
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi...	OMIM:608328
Stickler Syndrome	Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Kyphosis,...	ORPHA:828
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Hypoplasia of the ma...	OMIM:277600
Aicardi Syndrome	Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missing ribs, Block v...	OMIM:304050
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Metatarsus adductus, Clinodactyly, Neonatal hyperbilirubinemia	ORPHA:293939
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Coronal craniosynostosis	OMIM:241310
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis	OMIM:617796
Myhre Syndrome	Abnormal metaphysis morphology, Platyspondyly, Craniofacial hyperostosis, Mandibular prognathia, ...	ORPHA:2588
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Genu valgum, Cubitus valgus, Mandibular prognathia, Joint hypermobility, Hypoplasia of the zygoma...	ORPHA:1778
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla	OMIM:618737
Severe Oculo-Renal-Cerebellar Syndrome	Sandal gap, Mandibular prognathia, Scoliosis, Joint hypermobility, Hypoplasia of the zygomatic bo...	ORPHA:2715
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Mandibular prognathia, Abnormal pel...	ORPHA:3079
Sclerosteosis 1	Mandibular prognathia, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically de...	OMIM:269500
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal hip bone morphology, Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic b...	ORPHA:1110
Frontometaphyseal Dysplasia 2	Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial head, Scoliosis,...	OMIM:617137
Tangier Disease	Hypertriglyceridemia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypocholesterolemia	ORPHA:31150
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger, Clinodactyly, Brachydactyly	OMIM:614261
Meier-Gorlin Syndrome 4	Slender long bone, Genu recurvatum, Hypoplasia of the maxilla, Delayed skeletal maturation, Micro...	OMIM:613804
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho...	OMIM:304120
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Harrod Syndrome	Abnormal shoulder morphology, Scoliosis, Abnormal pelvic girdle bone morphology, Kyphosis, Arachn...	ORPHA:2115
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Tracheomalacia, Camptodactyly, Hypoplasia of the maxilla, Micrognat...	ORPHA:314679
Arnold-Chiari Malformation Type I	Stiff neck, Abnormality of the musculature of the lower limbs, Cervical C2/C3 vertebral fusion, F...	ORPHA:268882
Marshall Syndrome	Genu valgum, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Micrognathia, Malar flatteni...	ORPHA:560
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar...	OMIM:600383
Dyskeratosis Congenita	Anemia, Avascular necrosis, Scoliosis, Osteoporosis, Hypoplasia of the maxilla, Carious teeth, Co...	ORPHA:1775
Crouzon Syndrome	Lambdoidal craniosynostosis, Mandibular prognathia, Hypoplasia of the maxilla, Coronal craniosyno...	OMIM:123500
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Frontorhiny	Scoliosis, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodactyly of finger, Brach...	ORPHA:391474
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Trismus	OMIM:616367
Cowden Syndrome 1	Scoliosis, Lymphopenia, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkera...	OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Arachnodactyly, Micrognathia,...	OMIM:309520
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of hallux, Pes cavus, Sacral dimple, Proximal placement of...	OMIM:613458
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93945
Orofaciodigital Syndrome X	Retrognathia, Fibular aplasia, Finger aplasia, Preaxial hand polydactyly, Coalescence of tarsal b...	OMIM:165590
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Preaxial hand polydactyly	ORPHA:79113
Microphthalmia, Syndromic 3	Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Vertebral fusion	OMIM:206900
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Ulnar bowing, Pterygium, Hypoplastic iliac wing, Oligoda...	OMIM:263650
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Gorlin-Chaudhry-Moss Syndrome	Abnormal foot morphology, Abnormal metacarpal morphology, Hypoplasia of the maxilla, Coronal cran...	ORPHA:2095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B...	OMIM:102700
Fibular Dimelia-Diplopodia Syndrome	Sacrococcygeal teratoma, Absent tibia	ORPHA:1757
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the...	ORPHA:3109
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Fused cervical vertebrae, B lymphocytopenia, Cleft vertebral arch, Coronal craniosy...	ORPHA:83617
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger	OMIM:167730
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Short hallux, Tapered finger, Camptodactyly, Hypoplasia of the maxilla,...	OMIM:608156
Hydrolethalus Syndrome 1	Stillbirth, Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of ...	OMIM:236680
7Q31 Microdeletion Syndrome	Clinodactyly of the 2nd finger, Scoliosis, Prominent fingertip pads, Hypoplasia of the maxilla, D...	ORPHA:251061
Elsahy-Waters Syndrome	Supernumerary tooth, Agenesis of incisor, Cervical C2/C3 vertebral fusion, Delayed eruption of te...	OMIM:211380
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Singleton-Merten Syndrome 1	Osteopenia, Pes cavus, Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals wit...	OMIM:182250
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro...	OMIM:180849
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Carious teeth, Micrognathia,...	ORPHA:3253
Ear-Patella-Short Stature Syndrome	Retrognathia, Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Mandibular apl...	ORPHA:2554
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Microretrognathia	ORPHA:228396
Cowden Syndrome 5	Scoliosis, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis	OMIM:615108
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron def...	OMIM:301074
Cleft Lip/Palate	Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Dental malocclusion, Agenesis o...	ORPHA:199306
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Thoracolumbar kyphosis, Flexion contracture of toe, Clinodac...	OMIM:300373
Cowden Syndrome 6	Scoliosis, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis	OMIM:615109
Flat Face-Microstomia-Ear Anomaly Syndrome	Scoliosis, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone	ORPHA:1968
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone, Clinodactyly of the 5th finger	ORPHA:3074
Heterotaxy, Visceral, 1, X-Linked	Short long bone, Bilateral talipes equinovarus, Congenital hip dislocation, Asplenia, Block verte...	OMIM:306955
Chops Syndrome	Splenomegaly, Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia	OMIM:616368
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli...	ORPHA:1422
Treacher-Collins Syndrome	Retrognathia, Abnormality of the vertebral column, Abnormal dental enamel morphology, Abnormality...	ORPHA:861
Primrose Syndrome	Pes cavus, Genu valgum, Reduced bone mineral density, Joint hypermobility, Increased size of the ...	OMIM:259050
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Scoliosis	OMIM:105830
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short foot, Fusion of middle ear ossicles...	OMIM:157800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusi...	ORPHA:444077
Treacher Collins Syndrome 3	Micrognathia, Hypoplasia of the zygomatic bone, Malar flattening	OMIM:248390
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos...	ORPHA:911
Kinsship Syndrome	Polydactyly, Osteopenia, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Mandibular pr...	OMIM:619297
Branchioskeletogenital Syndrome	Mandibular prognathia, Abnormal dentin morphology, Upper limb peromelia, Amelia involving the low...	ORPHA:1299
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia	OMIM:301108
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra...	OMIM:101400
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphocytosis, Arthritis, Neutropenia in presence of anti-neutropil ...	ORPHA:3261
Goldberg-Shprintzen Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Increased femoral anteversion, Short n...	OMIM:609460
Ellis Van Creveld Syndrome	Acute leukemia, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Conical incisor, Synostos...	ORPHA:289
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Scoliosis, Hypoplasia of the maxilla, Camptodactyly of finger, Ulnar devia...	ORPHA:1101
Charge Syndrome	Hypoplasia of the ulna, Hypocalcemia, Scoliosis, Hemivertebrae, Lymphopenia, Absent tibia, Hand m...	OMIM:214800
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hypocalcemia, Broad toe, Triphalangea...	OMIM:218330
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Tapered finger	ORPHA:1920
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ...	ORPHA:989
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Hypoplasia of the maxilla, Carious teeth, Enamel hypoplasia, Syndac...	OMIM:129400
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Syndac...	OMIM:261540
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus	ORPHA:1827
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Distal Deletion 19P	Hypoplasia of the maxilla, Arachnodactyly, Long toe, Joint hypermobility	ORPHA:96129
Thakker-Donnai Syndrome	Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion	ORPHA:1780
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Abnormal fibula morphology, Sandal gap, Abnormal dental enamel morphology, Hypoplas...	ORPHA:1812
Orofaciodigital Syndrome Type 4	Retrognathia, Joint dislocation, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micro...	ORPHA:2753
Orofaciodigital Syndrome Type 1	Tarsal synostosis, Clinodactyly of the 5th finger, Reduced bone mineral density, Finger syndactyl...	ORPHA:2750
Tibial Hemimelia	Absent tibia	OMIM:275220
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening	ORPHA:2835
Cutis Laxa, Autosomal Recessive, Type Iic	Kyphoscoliosis, Knee flexion contracture, Mandibular prognathia, Camptodactyly, Hypoplasia of the...	OMIM:617402
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Sacral dimple, Mandibular prognathia, Microretrognathia, Hypoplasia of the zygomatic bone, Tapere...	OMIM:613603
Zttk Syndrome	Scoliosis, Hemivertebrae, Kyphosis, Hypoplasia of the maxilla, Flexion contracture, Joint hypermo...	OMIM:617140
Floating-Harbor Syndrome	Kyphoscoliosis, 11 pairs of ribs, Dislocated radial head, Short clavicles, Short metacarpal, Pers...	ORPHA:2044
Treacher Collins Syndrome 2	Retrognathia, Fusion of middle ear ossicles, Micrognathia, Malar flattening, Microretrognathia, H...	OMIM:613717
Holoprosencephaly	Talipes, Abnormal form of the vertebral bodies, Scoliosis, Hyponatremia, Hand polydactyly, Abnorm...	ORPHA:2162
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia...	ORPHA:2975
Craniosynostosis And Dental Anomalies	Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth, Hallux valgus, Mandi...	OMIM:614188
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger	ORPHA:2399
Cardiofaciocutaneous Syndrome	Genu valgum, Cubitus valgus, Scoliosis, Abnormal morphology of ulna, Palmoplantar keratoderma, Sh...	ORPHA:1340
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Mandibular prognathia	OMIM:601499
Craniofacial Microsomia 1	Genu valgum, Maxillozygomatic hypoplasia, Scoliosis, Vertebral hypoplasia, Hemivertebrae, Hypopla...	OMIM:164210
Williams Syndrome	Abnormal circulating lipid concentration, Abnormal form of the vertebral bodies, Hyperlordosis, K...	ORPHA:904
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar cutis gyrata, Malar flattening, Palmoplantar keratoderma, Craniosynostosis, Hypoplas...	ORPHA:1555
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla	ORPHA:782
Barber-Say Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of t...	OMIM:209885
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia	ORPHA:139402
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Bowing of the long bones, Arachnodactyly, Micrognathia, Neonatal death, Long finger...	OMIM:614437
Liver Disease, Severe Congenital	Anemia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalaninemia, Hypona...	OMIM:619991
X-Linked Mandibulofacial Dysostosis	Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:1131
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the phalanges of the thumb, Reduced C-pep...	ORPHA:556955
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening	OMIM:122880
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, 2-3 toe syndactyly, Palmoplantar keratoderma	OMIM:106260
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Hyperextensible hand joints, Slender long bone, Hemivertebrae, Hyperextensibility...	ORPHA:500150
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal...	ORPHA:51608
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of finger	ORPHA:920
Kikuchi-Fujimoto Disease	Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Leukopenia, Splenom...	ORPHA:50918
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Split hand, Ectrodactyly, Hypoplasia of the maxilla, Carious teeth, Split foo...	OMIM:604292
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger, Brachydactyly...	ORPHA:306542
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Clinodactyly of the 5th finger, Pterygium, Flared lower limb metaphysis, Metopic sy...	OMIM:616462
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradial synostosis,...	ORPHA:3404
Charge Syndrome	Polydactyly, Abnormal tibia morphology, Talipes, Clinodactyly of the 5th finger, Delayed eruption...	ORPHA:138
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Hypoplasia of the maxilla	ORPHA:238468
Holoprosencephaly 9	Agenesis of incisor, Postaxial hand polydactyly, Hypoplasia of the maxilla, Hypoplasia of the pre...	OMIM:610829
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Split hand, Hypoplasia of the maxilla, Carious teeth, Split foot, Hand polydactyly, Malar flatten...	OMIM:129900
Ablepharon-Macrostomia Syndrome	Clinodactyly of the 5th finger, Aplastic zygomatic arch, Short metacarpal, Camptodactyly, Cutaneo...	OMIM:200110
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Taurodontia	OMIM:305100
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hypoplasia of the zygomatic bone, Neonatal death, Hitchhiker thumb	OMIM:618500
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500
Holoprosencephaly 2	Scoliosis, Malar flattening, Aplasia of the premaxilla	OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Sternum - MPATH pathological process term hyperplasia	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Sternum - MPATH pathological process term fibro-osseous lesion	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Knee joint - MPATH pathological process term neoplasia	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Knee joint - MPATH pathological process term developmental dysplasia	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ttc28.

No publications found that use IMPC mice or data for Ttc28.

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MGI Allele	Allele Type	Produced
Ttc28^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ttc28^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Ttc28^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ttc28 MGI:2140873

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lacZ Expression

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