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

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Hind Leg and Hip

11 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Histopathology

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 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 (520 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	Congenital hip dislocation, Delayed skeletal maturation, Limited hip movement, Lower limb pain, L...	ORPHA:168621
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom...	OMIM:610539
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Abnormality of the vertebral column, Short toe, Carpal synost...	OMIM:112910
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ...	OMIM:127300
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A...	OMIM:113000
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Elbow dislocation, Radial bow...	OMIM:201250
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Elbow d...	ORPHA:90650
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o...	ORPHA:2098
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ...	OMIM:156510
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Ectopic ossifi...	ORPHA:337
Atelosteogenesis, Type Iii	Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Elbow dislocation, Radial bow...	OMIM:108721
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu...	ORPHA:1972
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Retrognathia, Micrognathia, Anisocytosis, Camptodactyly, Flexion contracture, Rocker bottom foot	OMIM:604273
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve...	OMIM:250460
Stuve-Wiedemann Syndrome 1	Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bo...	OMIM:601559
Aarskog-Scott Syndrome	Genu recurvatum, Small hand, Hypoplasia of the maxilla, Finger syndactyly, Delayed eruption of te...	ORPHA:915
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E...	ORPHA:1106
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, ...	ORPHA:3320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, H...	OMIM:606612
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Developmental And Speech Delay Due To Sox5 Deficiency	Hyperplasia of the maxilla, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Verteb...	ORPHA:313892
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Sacral dimple	OMIM:618845
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic...	OMIM:620076
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Malar prominence, Abnormal hip bone morphology, Micrognathia, S...	ORPHA:2522
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Microme...	ORPHA:429
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Dentinogenesis imperfecta, Ver...	OMIM:610967
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ...	ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Narrow pelvis bone, Abno...	ORPHA:66637
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental ...	ORPHA:2916
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Verheij Syndrome	Short 5th finger, Clinodactyly, Retrognathia, Joint hypermobility, Short neck, Hemivertebrae, Ver...	OMIM:615583
Squalene Synthase Deficiency	Slender long bone, Retrognathia, Elbow flexion contracture, Hypocholesterolemia, Micrognathia, Kn...	OMIM:618156
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Potocki-Lupski Syndrome	Dental malocclusion, Hypocholesterolemia, Micrognathia, Scoliosis, Mandibular prognathia	OMIM:610883
Atelosteogenesis, Type I	Elbow dislocation, Radial bowing, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes...	OMIM:108720
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Mand...	ORPHA:950
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Neona...	OMIM:251230
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Short neck, Absent phalangeal crease, Fused thoracic vertebrae, Antecubital ...	OMIM:618469
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi...	ORPHA:2370
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar...	OMIM:166300
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Pycnodysostosis	Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hypoplastic iliac wing, Hep...	ORPHA:763
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to...	ORPHA:370010
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...	ORPHA:2345
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger...	OMIM:244600
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm short...	OMIM:268305
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s...	OMIM:178110
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular...	OMIM:612447
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hypomineralization, Hypopho...	OMIM:307800
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan...	ORPHA:1436
Kbg Syndrome	Persistent open anterior fontanelle, Delayed skeletal maturation, Finger clinodactyly, Short neck...	ORPHA:2332
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Short finger, Micrognathia, Increased susceptibility to fractures, Multiple pt...	OMIM:312150
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Hyperlordosis, Thigh...	OMIM:607155
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Kyphosis, Delayed skeletal maturation, Hypocholesterolemia, Splenomegaly, Short ...	OMIM:608776
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i...	OMIM:135100
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Scoliosis, Syndactyly	ORPHA:1445
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Patchy distorti...	ORPHA:1248
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac...	OMIM:201000
Spondylocostal Dysostosis 5	Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Hemivertebrae, Vertebral fusion, Sc...	OMIM:122600
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Carpal bone aplasia, Fibular aplasia, Absent ha...	OMIM:200500
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Short finger, Micrognathia, Increased susceptibility to fractures, Multiple pt...	OMIM:253290
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Unicoronal syn...	OMIM:616300
Pde4D Haploinsufficiency Syndrome	Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Short metacarpal, Irre...	ORPHA:439822
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Squared iliac bones, Knee dislocation, Shoulder dislocation, Micrognathia, Generalize...	OMIM:618000
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Hyperextensibility of the finger joints, Fe...	OMIM:231070
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Delayed skeletal ...	OMIM:608154
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Hypocalcemia, Short humerus, Short ribs...	OMIM:607143
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ...	OMIM:151200
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Delayed skeletal maturation, Her...	OMIM:601216
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Leukopenia, Genu v...	OMIM:216550
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi...	OMIM:274000
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Camptodactyly of finger, Carpal synos...	ORPHA:90652
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sandwich appearance of vertebral b...	ORPHA:210110
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Micromelia, Flared metaphysis, Advanced tarsal ossification, Micro...	OMIM:215045
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Persistent o...	ORPHA:1798
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, C...	OMIM:112350
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar sc...	OMIM:616549
Peroxisome Biogenesis Disorder 3B	Hypocholesterolemia, Elevated circulating phytanic acid concentration, Malar flattening, Steatorr...	OMIM:266510
Christian Syndrome	Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused...	OMIM:309620
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiph...	ORPHA:90653
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o...	ORPHA:363417
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the...	ORPHA:1540
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Elbow dislocatio...	ORPHA:968
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Osteolysis	ORPHA:2776
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Genu valgum, Micrognathia, Decreased skull ossification, Abn...	ORPHA:1452
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, Short foot, Short metacarpal, Hypoplasia of the maxilla...	OMIM:170390
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Alg12-Cdg	Hypoalbuminemia, Sandal gap, Hypocholesterolemia, Overlapping fingers, Micrognathia, Clinodactyly...	ORPHA:79324
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, H...	ORPHA:79345
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske...	OMIM:602111
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia...	OMIM:265000
Lamb-Shaffer Syndrome	Micrognathia, Fused cervical vertebrae, Hip dysplasia, Scoliosis, Thoracic kyphosis	ORPHA:530983
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos...	ORPHA:93352
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di...	OMIM:620663
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Joint hypermobility, Shor...	ORPHA:1803
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole...	OMIM:615558
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Short tibia, Preaxial polydactyly, Micrognathia, Decreased calvarial ossification, N...	OMIM:617925
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h...	OMIM:222765
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Missing rib...	OMIM:613686
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Joint swelling, Neutrophilia, Elev...	OMIM:612852
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Mandibular pain, Thi...	OMIM:607634
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed skeletal maturation, Decrea...	OMIM:616834
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
Congenital Erythropoietic Porphyria	Osteopenia, Unconjugated hyperbilirubinemia, Erythrodontia, Leukopenia, Erythroid hyperplasia, Ab...	ORPHA:79277
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis,...	OMIM:101800
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ...	OMIM:123000
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilirubinemia	OMIM:607765
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Koolen-De Vries Syndrome	Hip dislocation, Abnormal dental enamel morphology, Joint hypermobility, Vertebral segmentation d...	ORPHA:96169
Lateral Meningocele Syndrome	Sclerosis of skull base, Micrognathia, Malar flattening, Biconcave vertebral bodies, Joint hyperm...	OMIM:130720
Cleidocranial Dysplasia 2	Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Hypoplasia of the max...	OMIM:620099
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypopl...	ORPHA:3027
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, P...	ORPHA:198
Mosaic Trisomy 20	Craniofacial asymmetry, Clinodactyly, Retrognathia, Spinal canal stenosis, Micrognathia, Vertebra...	ORPHA:1724
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Kyphos...	OMIM:109400
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli...	ORPHA:14
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	Genu valgum, Micrognathia, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Cubi...	ORPHA:314795
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Micrognathia, Neonatal death	OMIM:618810
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Micrognathia, Broad first metatarsal, Cone-shaped ep...	ORPHA:2751
Acro-Renal-Mandibular Syndrome	Hip dislocation, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Hypoplasia of the z...	ORPHA:958
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph...	ORPHA:397973
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy...	OMIM:228930
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma...	ORPHA:2662
Myhre Syndrome	Platyspondyly, Hypoplasia of the maxilla, Cone-shaped epiphysis, Limitation of joint mobility, Cl...	OMIM:139210
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteom...	ORPHA:324964
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Broad phalan...	OMIM:166250
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Abnormal limb bone morphology, Scoliosis, Abnormal v...	OMIM:118100
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoproteinemia, Eleva...	ORPHA:96180
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Short palm...	ORPHA:85279
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Joint hypermobility, Arachnodac...	ORPHA:776
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae	OMIM:214300
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Genu varum, ...	ORPHA:289157
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Micr...	ORPHA:2097
Dislocation Of The Hip-Dysmorphism Syndrome	Congenital hip dislocation, Deviation of finger, Malar flattening, Prominence of the premaxilla, ...	ORPHA:2412
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening, Abnormal meta...	ORPHA:93262
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hypoplasia of the maxilla, Overlapping toe, Micrognathia, Recurrent sinusitis, Joint hypermobilit...	OMIM:213980
Split-Hand/Foot Malformation 3	Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Split hand	OMIM:246560
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the zygomatic bone, Sho...	ORPHA:710
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of the...	ORPHA:1529
Cartilage-Hair Hypoplasia	Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ...	OMIM:250250
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Martsolf Syndrome 1	Hypoplasia of the maxilla, Broad femoral neck, Tracheomalacia, Short toe, Talipes valgus, Slender...	OMIM:212720
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Hypophosphatemia, Rickets, Femora...	OMIM:277440
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Lumbar hyperlordosis, Elevated circulating creatine kinas...	OMIM:167320
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Osteomalacia, Sclerotic vertebral endplates, Rickets of the lower limbs, ...	ORPHA:289176
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, ...	OMIM:209950
Malan Syndrome	Mandibular prognathia, Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, A...	OMIM:614753
Koolen-De Vries Syndrome	Slender finger, Kyphosis, Prominent fingertip pads, Positional foot deformity, Spondylolisthesis,...	OMIM:610443
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Gorlin Syndrome	Abnormal vertebral morphology, Mandibular prognathia, Plantar pits, Carious teeth, Vertebral wedg...	ORPHA:377
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Bowing of limbs due to mult...	OMIM:259420
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ...	OMIM:618278
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Rickets, Femoral bowing, Hypoc...	OMIM:264700
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Long foot, Scoliosis, Mandibular prognathia, Kyphosis	OMIM:300676
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Retrognathia, Micrognathia, Neonatal...	OMIM:227270
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Proximal/middle sympha...	OMIM:184460
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Osteopenia, Hypocholesterolemia, Thrombocytosis, Steatorrhea, Flexion contractur...	OMIM:212065
Fibrochondrogenesis 1	Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Short neck, Br...	OMIM:228520
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Eruption failure, Long hallux,...	OMIM:600002
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen...	OMIM:620306
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Aarskog-Scott Syndrome	Short 5th finger, Cervical spine hypermobility, Hypoplasia of the odontoid process, Hypoplasia of...	OMIM:305400
Cohen Syndrome	Hypoplasia of the maxilla, Finger syndactyly, Sandal gap, Hypoplasia of the zygomatic bone, Abnor...	ORPHA:193
Frontonasal Dysplasia 1	Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge...	OMIM:136760
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Abnormality of the...	ORPHA:249
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Carious teeth, Hypocholesterolemia, Micrognathia, Metatarsus adductus...	OMIM:244450
Shashi-Pena Syndrome	Retrognathia, Cervical C2/C3 vertebral fusion, Short metacarpal, Accelerated skeletal maturation,...	OMIM:617190
Ophthalmomandibulomelic Dysplasia	Radial bowing, Lateral humeral condyle aplasia, Elbow dislocation, Decreased mobility 3rd-5th fin...	OMIM:164900
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Abnormal bone ossification, Neutropenia, Diaphy...	ORPHA:175
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Delayed eruption of teeth, Delayed skeletal maturation, Hypochole...	OMIM:223370
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Jo...	ORPHA:245
Fanconi Anemia, Complementation Group I	Absent thumb, Short 1st metacarpal, Short thumb, Short neck, Hypoplasia of the radius, Neutropeni...	OMIM:609053
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hy...	ORPHA:192
Van Maldergem Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Tracheomalacia, Clinodactyly, Abnorma...	OMIM:601390
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Pes planus, ...	ORPHA:1328
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Clinodactyly of the 5th finger, Down-sloping shoulders, Hyperextensible hand...	OMIM:227330
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foot, Hypoplas...	OMIM:601812
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v...	OMIM:224690
Orofaciodigital Syndrome Ii	Metaphyseal irregularity, Postaxial foot polydactyly, Hypoplasia of the maxilla, Flared metaphysi...	OMIM:252100
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Abnormality of the ankle, Aplasia/Hypoplasia of the radius, Microretro...	ORPHA:1307
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, Flexion contracture, Scoliosis, Tape...	OMIM:218000
Seckel Syndrome 1	Ivory epiphyses, Dental malocclusion, Sandal gap, Delayed skeletal maturation, Hypoplasia of prox...	OMIM:210600
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Short neck, Pes planus, Cervi...	ORPHA:508498
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Mandibular prognathia, Toe syndactyly, Broad thumb, Finger syndactyly...	ORPHA:373
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Acanthocytosis	ORPHA:71
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia	OMIM:601809
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:3429
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Kyphosis, Radial bowing, Slender long bone,...	OMIM:610915
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Broad thumb, Malar flattening, Broad hallux phalanx	ORPHA:261295
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Van Maldergem Syndrome 2	Osteopenia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, Dental malocclusion, Tracheo...	OMIM:615546
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormality of the vertebral column, Malar flattening, Hip dislocation...	OMIM:109120
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Broad thumb, Broad hallux, Wrist hypermobility, Joint hypermobility, A...	ORPHA:481152
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro...	OMIM:164745
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L...	OMIM:203500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o...	ORPHA:3035
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Micrognathia, Splenomegaly, Kyphoscoliosis, Limb undergr...	OMIM:608149
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin...	OMIM:608940
Wolf-Hirschhorn Syndrome	Micrognathia, Radioulnar synostosis, Talipes equinovarus, Short hallux, Hip dislocation, Delayed ...	OMIM:194190
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Punctate vertebral calcifications, Stippled c...	OMIM:302960
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Kyphosis, Tracheomalacia, 11 pairs of ribs, Mi...	ORPHA:140
Osteogenesis Imperfecta, Type X	Platyspondyly, Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Micromelia, Genu valgum, Microg...	OMIM:613848
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular d...	OMIM:143095
Kbg Syndrome	Radial deviation of finger, Delayed skeletal maturation, Ulnar deviation of the 2nd finger, Clino...	OMIM:148050
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Micrognathia, Talipes equinovar...	ORPHA:233
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300554
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Talipes equinovarus, Camptodactyly, Joint hypermobility	OMIM:617333
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla	OMIM:300266
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Recon Progeroid Syndrome	Delayed eruption of permanent teeth, Long thumb, Joint hypermobility, Arachnodactyly, Prominence ...	OMIM:620370
Shprintzen-Goldberg Syndrome	Osteopenia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Elbow dislocation, ...	ORPHA:2462
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Absent...	OMIM:607323
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Hip dislocatio...	OMIM:270400
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Abnorma...	ORPHA:1133
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Apert Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Delayed er...	ORPHA:87
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hyponatremia, Mandibular...	OMIM:620157
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl...	OMIM:119800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydact...	OMIM:263520
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe...	ORPHA:3145
8Q22.1 Microdeletion Syndrome	Hypoplasia of the maxilla, Limitation of joint mobility, Finger syndactyly, Sandal gap, Camptodac...	ORPHA:178303
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Osteopenia, Joint contracture of the hand, Hypoplasia of the maxilla, Dental mal...	OMIM:182212
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Flared metaphysis, Hepatosplenome...	OMIM:259720
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Posterior wedging of vertebral bodies, High iliac wing, Carious teeth,...	ORPHA:50814
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili...	ORPHA:232
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Elbow fle...	OMIM:200980
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the f...	OMIM:260660
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Short neck, Hemivertebrae, Ve...	OMIM:271520
Antley-Bixler Syndrome	Hypoplasia of the zygomatic bone, Camptodactyly of finger, Delayed cranial suture closure, Joint ...	ORPHA:83
Andersen-Tawil Syndrome	Small hand, Hypoplasia of the maxilla, Hyperaldosteronism, Persistence of primary teeth, Microgna...	ORPHA:37553
Robinow Syndrome	Short distal phalanx of finger, Dental malocclusion, Persistence of primary teeth, Micrognathia, ...	ORPHA:97360
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Wormian b...	OMIM:166210
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Prominence of the premaxilla, Bulle...	OMIM:602535
Aicardi Syndrome	Block vertebrae, Small hand, Butterfly vertebrae, Prominence of the premaxilla, Missing ribs, Hip...	ORPHA:50
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Distal 17P13.1 Microdeletion Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, Generalized joint hyper...	ORPHA:319171
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Abnormal cortical bone morphology, Prominence of the premaxilla, Delayed clos...	OMIM:614886
Prolidase Deficiency	Carious teeth, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Abnormal hip bone morp...	ORPHA:742
Wildervanck Syndrome	Short neck, Fused cervical vertebrae	ORPHA:3456
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Pes planus	OMIM:618302
3Mc Syndrome 2	Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Limited elb...	OMIM:265050
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93950
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Abnormal form of the vertebral bodies, Finger syndactyly,...	ORPHA:794
Sifrim-Hitz-Weiss Syndrome	Short clavicles, Wormian bones, Fused cervical vertebrae, Flat acetabular roof, Short femoral nec...	OMIM:617159
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Micrognathia, Cubitus valgus, Talipes ...	OMIM:300534
Lowry-Maclean Syndrome	Osteopenia, Hypoplasia of the maxilla, Widely patent coronal suture, Retrognathia, Micrognathia, ...	ORPHA:2409
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
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, Delayed skeletal maturation, Micromelia, Broad hallux, Hypoplasia of the zygomatic bo...	OMIM:614800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Hajdu-Cheney Syndrome	Micrognathia, Decreased skull ossification, Absent frontal sinuses, Bowing of the long bones, Sho...	ORPHA:955
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth	OMIM:619142
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back pain, Acute myeloid leukemia,...	ORPHA:86843
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency...	ORPHA:1667
Beta-Thalassemia Intermedia	Osteopenia, Abnormality of iron homeostasis, Extramedullary hematopoiesis, Persistence of hemoglo...	ORPHA:231222
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Clinodactyly, Elbow dislocation, Delayed skeletal maturation, Slender ...	OMIM:613805
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Butterfly vertebrae, Retrognathia, Fused cervical vertebrae	OMIM:619227
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Joint stiffness, Genu valgum, A...	ORPHA:1295
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Pteryg...	OMIM:211350
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym...	ORPHA:90363
Acrofacial Dysostosis, Catania Type	Small hand, Microretrognathia, Carious teeth, Finger syndactyly, Delayed skeletal maturation, Hyp...	ORPHA:1786
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Ulnar deviat...	OMIM:142900
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Tracheomalacia, Delayed skeletal maturation, Patell...	OMIM:613803
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the...	ORPHA:1834
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad phalanges of the hand, Delayed skeletal maturation, Short finger...	OMIM:608328
Stickler Syndrome	Genu valgum, Micrognathia, Arachnodactyly, Hip dislocation, Protrusio acetabuli, Hypoplasia of th...	ORPHA:828
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad phalanges of the hand, Spinal canal stenosis, Joint stiffness, L...	OMIM:277600
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Malar ...	ORPHA:3144
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Prominence of the premaxilla, Missing ribs, Hemivertebrae, ...	OMIM:304050
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening	OMIM:241310
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Hypoplasia of the maxilla, Mandibular prognathia, Abnor...	ORPHA:2588
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion	OMIM:617796
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Neonatal hyperbilirubinemia, Clinodactyly, Metatarsus adductus	ORPHA:293939
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Hypoplasia of the zygomatic bone, Genu valgum, Joint hypermobility, Cubitus valgus, Mandibular pr...	ORPHA:1778
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla	OMIM:618737
Severe Oculo-Renal-Cerebellar Syndrome	Sandal gap, Hypoplasia of the zygomatic bone, Malar prominence, Joint hypermobility, Scoliosis, M...	ORPHA:2715
Intellectual Disability, Buenos-Aires Type	Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvic girdle bone morphology, Dental malo...	ORPHA:3079
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Dental malocclusion, Facial palsy se...	OMIM:269500
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphology, Mandibular prognat...	ORPHA:1110
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Broad thumb, Finger clinodactyly, Elbow contracture, Flared metaphysi...	OMIM:617137
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Brachydactyly, Clinodactyly	OMIM:614261
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	ORPHA:31150
Meier-Gorlin Syndrome 4	Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Delayed skeletal maturation, Micro...	OMIM:613804
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Immunodeficiency 92	Osteomyelitis, Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switche...	OMIM:619652
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnormal shoulder morphology, Joint ...	ORPHA:2115
Cerebrofacioarticular Syndrome	Osteopenia, Hypoplasia of the maxilla, Caudal appendage, Tracheomalacia, Micrognathia, Talipes eq...	ORPHA:314679
Arnold-Chiari Malformation Type I	Fatigable weakness of swallowing muscles, Stiff neck, Cervical C2/C3 vertebral fusion, Abnormalit...	ORPHA:268882
Marshall Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Genu valgum, Malar fla...	ORPHA:560
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromel...	OMIM:600383
Dyskeratosis Congenita	Hypoplasia of the maxilla, Carious teeth, Coarse metaphyseal trabecularization, Palmoplantar kera...	ORPHA:1775
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Abnormality of ...	OMIM:123500
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Br...	ORPHA:391474
Phocomelia, Schinzel Type	Finger aplasia, Aplasia/Hypoplasia of the sacrum, Radial bowing, Aplasia/Hypoplasia involving the...	ORPHA:2879
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Micrognathia, Trismus, Delayed eruption of primary teeth	OMIM:616367
Cowden Syndrome 1	Hypoplasia of the maxilla, Lymphopenia, Micrognathia, Palmoplantar hyperkeratosis, Scoliosis, Kyp...	OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Broad thumb, Micrognathia, Joint hypermobility, Arachnodactyly, Flexio...	OMIM:309520
Chromosome 16P13.3 Duplication Syndrome	Short toe, Short thumb, Sandal gap, Cervical C5/C6 vertebrae fusion, Micrognathia, Pes cavus, Pro...	OMIM:613458
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93945
Orofaciodigital Syndrome X	Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, 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, Missing ribs, Hemivertebrae, Vertebral fusion, Vertebral hypoplasia	OMIM:206900
Bartsocas-Papas Syndrome 1	Axillary pterygium, Hypoplastic scapulae, Popliteal pterygium, Absent thumb, Short thumb, Hypopla...	OMIM:263650
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Short distal phalanx of finger, Abnormal foo...	ORPHA:2095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Abnormal pelvic girdle bone morphology, Growth arrest lines, Lymphopenia, Autoimmu...	OMIM:102700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Retrognathia, Contracture of the distal interphalangeal joint of the fi...	ORPHA:83617
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla	OMIM:167730
Nablus Mask-Like Facial Syndrome	Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Sandal gap, Retrognathia,...	OMIM:608156
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino...	OMIM:236680
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Delayed skeletal maturation, Prominent...	ORPHA:251061
Elsahy-Waters Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Shortening of all phal...	OMIM:211380
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Singleton-Merten Syndrome 1	Osteopenia, Joint subluxation, Shallow acetabular fossae, Expanded metatarsals with widened medul...	OMIM:182250
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Talipes equino...	OMIM:180849
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Hypoplasia of the zygomatic bone, Abnormal dent...	ORPHA:3253
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Elbow dislocation, D...	ORPHA:2554
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia	ORPHA:228396
Cowden Syndrome 5	Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis, Scoliosis, Kyphosis	OMIM:615108
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit...	ORPHA:199306
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Metaphyseal irregularity, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ...	OMIM:208500
Osteopathia Striata With Cranial Sclerosis	Thoracolumbar kyphosis, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalaci...	OMIM:300373
Cowden Syndrome 6	Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis, Scoliosis, Kyphosis	OMIM:615109
Flat Face-Microstomia-Ear Anomaly Syndrome	Hypoplasia of the zygomatic bone, Camptodactyly of finger, Micrognathia, Malar flattening, Scoliosis	ORPHA:1968
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone	ORPHA:3074
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Polysplenia, Short long bone,...	OMIM:306955
Chops Syndrome	Cervical C2/C3 vertebral fusion, Tracheomalacia, Brachydactyly, Splenomegaly	OMIM:616368
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Increased skull ossification, Micromelia, Broad long bone...	ORPHA:1422
Treacher-Collins Syndrome	Hypoplasia of the maxilla, Abnormality of the vertebral column, Hypoplasia of the zygomatic bone,...	ORPHA:861
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Scoliosis	OMIM:105830
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synosto...	OMIM:157800
Primrose Syndrome	Elevated circulating alpha-fetoprotein concentration, Short distal phalanx of finger, Hypoplasia ...	OMIM:259050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Microgn...	ORPHA:444077
Treacher Collins Syndrome 3	Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone	OMIM:248390
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo...	ORPHA:911
Kinsship Syndrome	Mesomelia, Osteopenia, Mandibular prognathia, Micrognathia, Fibular hypoplasia, Polydactyly, Shor...	OMIM:619297
Branchioskeletogenital Syndrome	Hypoplasia of the maxilla, Carious teeth, Abnormality of the vertebral spinous processes, Upper l...	ORPHA:1299
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia	OMIM:301108
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ...	OMIM:101400
Goldberg-Shprintzen Syndrome	Small hand, Hypoplasia of the maxilla, Short neck, Clinodactyly of the 5th finger, Increased femo...	OMIM:609460
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol...	ORPHA:3261
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Acute leukemia, Abnormal pelvic girdle bone morphology, Synostosi...	ORPHA:289
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Mandibular prognathia, Camptodactyly of fin...	ORPHA:1101
Charge Syndrome	Bifid femur, Short thumb, Hand monodactyly, Lymphopenia, Micrognathia, Hypocalcemia, Malar flatte...	OMIM:214800
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ...	OMIM:218330
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
Toluene Embryopathy	Micrognathia, Hypoplasia of the zygomatic bone, Tapered finger	ORPHA:1920
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Hypoplasia of t...	ORPHA:989
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Hypoplasia of the maxilla, Carious teeth, Palmoplantar keratoderma,...	OMIM:129400
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Broad foot, Limited elbow movement, Short neck, Short foot, Sho...	OMIM:261540
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Distal Deletion 19P	Arachnodactyly, Long toe, Hypoplasia of the maxilla, Joint hypermobility	ORPHA:96129
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae	ORPHA:1780
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of the zygomatic bone, Sandal gap, Retrognathia, Abnormal dental enamel morphology, Ab...	ORPHA:1812
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Joint dislocation, Finger syndactyly, Micromelia, Camptodactyly ...	ORPHA:2753
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
Tibial Hemimelia	Absent tibia	OMIM:275220
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Hypoplasia of the zygomatic bone	ORPHA:2835
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Hypoplasia of the maxilla, Overlapping toe, Malar flattening, Knee flexion contra...	OMIM:617402
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Hypoplasia of the zygomatic bone, Talipes equinovarus, Mandibular prognathia, ...	OMIM:613603
Zttk Syndrome	Small hand, Hypoplasia of the maxilla, Joint hypermobility, Hemivertebrae, Craniosynostosis, Flex...	OMIM:617140
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Carious teeth, Clinodactyly, Delayed skeletal maturation, Short thumb,...	ORPHA:2044
Treacher Collins Syndrome 2	Microretrognathia, Hypoplasia of the zygomatic bone, Retrognathia, Fusion of middle ear ossicles,...	OMIM:613717
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu...	OMIM:614188
Holoprosencephaly	Abnormal form of the vertebral bodies, Hypoplasia of the zygomatic bone, Abnormality of the splee...	ORPHA:2162
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla	ORPHA:2399
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Genu valgum, Abnormal morphology of u...	ORPHA:1340
Craniofacial Microsomia 1	Block vertebrae, Hypoplasia of the maxilla, Genu valgum, Micrognathia, Partial duplication of thu...	OMIM:164210
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Mandibular prognathia	OMIM:601499
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Malar flattening, Palmoplantar cutis ...	ORPHA:1555
Williams Syndrome	Synostosis of joints, Carious teeth, Genu valgum, Micrognathia, Radioulnar synostosis, Pes planus...	ORPHA:904
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla	ORPHA:782
Barber-Say Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Talipes ...	OMIM:209885
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Micrognathia, Joint hypermobility, Arachnodactyly, Bowing of the long bones, Neonat...	OMIM:614437
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat...	OMIM:617718
X-Linked Mandibulofacial Dysostosis	Micrognathia, Hypoplasia of the zygomatic bone	ORPHA:1131
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Micrognathia, Splen...	OMIM:619991
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Reduced C-peptide level, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of ...	ORPHA:556955
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand	OMIM:122880
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	2-3 toe syndactyly, Hypoplasia of the maxilla, Palmoplantar keratoderma	OMIM:106260
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Absent thumb, Slender long bone, Lumbar hyperlordosis, Kyphoscoliosis,...	ORPHA:500150
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ...	ORPHA:51608
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of finger	ORPHA:920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplasia of the maxilla, Toe syndactyly, Carious teeth, Hypoplastic sacrum, Ectrodactyly, Malar...	OMIM:604292
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of ...	ORPHA:306542
Acrofacial Dysostosis, Cincinnati Type	Hypoplasia of the maxilla, Retrognathia, Pterygium, Micrognathia, Femoral bowing, Acetabular dysp...	OMIM:616462
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Lymphocytosis, Elevated circulating C-reactive protein concentration, N...	ORPHA:50918
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h...	ORPHA:3404
Charge Syndrome	Bifid femur, Hypoplasia of the zygomatic bone, Delayed eruption of teeth, Abnormal tibia morpholo...	ORPHA:138
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis	ORPHA:238468
Holoprosencephaly 9	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Malar flattening, S...	OMIM:610829
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Toe syndactyly, Malar flattening, Hand polydactyly, Spl...	OMIM:129900
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Hypoplasia of the zygomatic bone, Cutaneous finger syndactyly, Aplastic zygomatic...	OMIM:200110
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Taurodontia, Hypoplasia of the maxilla	OMIM:305100
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hypoplasia of the zygomatic bone, Hitchhiker thumb, Neonatal death	OMIM:618500
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500
Holoprosencephaly 2	Aplasia of the premaxilla, Scoliosis, Malar flattening	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
Knee joint - MPATH pathological process term developmental dysplasia	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Sternum - MPATH pathological process term fibro-osseous lesion	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Sternum - MPATH pathological process term hyperplasia	Ttc28^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Knee joint - MPATH pathological process term neoplasia	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

Gene Summary

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Phenotypes

lacZ Expression

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Human diseases caused by Ttc28 mutations

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IMPC related publications

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Access Data Release 21.1 Data