Gene Summary

Name:
polycomb group ring finger 2
Synonyms:
Mel18,  Zfp144,  Rnf110,  mel-18

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
small spleen Pcgf2tm1b(KOMP)Mbp HET Early adult 0.00
abnormal testis morphology Pcgf2tm1b(KOMP)Mbp HET Early adult 0.00
abnormal lumbar vertebrae morphology Pcgf2tm1b(KOMP)Mbp HET   Early adult 3.18×10-05
increased bone mineral content Pcgf2tm1b(KOMP)Mbp HET Early adult 7.14×10-05
preweaning lethality, complete penetrance Pcgf2tm1b(KOMP)Mbp HOM   Early adult 0.00
small testis Pcgf2tm1b(KOMP)Mbp HET Early adult 0.00
abnormal spleen morphology Pcgf2tm1b(KOMP)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Aorta  Wholemount images  Section images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 50% (2 of 4)
Brown adipose tissue  Section images heterozygote 25% (1 of 4)
Cecum  Section images heterozygote 75% (3 of 4)
Cerebellum  Section images heterozygote 75% (3 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 100% (4 of 4)
Duodenum  Section images heterozygote 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 50% (2 of 4)
Eye  Wholemount images  Section images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 25% (1 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Ileum  Section images heterozygote 100% (4 of 4)
Jejunum  Section images heterozygote 25% (1 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Lung  Wholemount images  Section images heterozygote 100% (4 of 4)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 50% (2 of 4)
Ovary  Wholemount images heterozygote 25% (1 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Pancreas  Wholemount images  Section images heterozygote 75% (3 of 4)
Parotid gland  Section images heterozygote 25% (1 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Skin  Section images heterozygote 25% (1 of 4)
Spinal cord  Wholemount images  Section images heterozygote 50% (2 of 4)
Spleen  Wholemount images  Section images heterozygote 50% (2 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Sublingual gland  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 50% (2 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Tongue  Wholemount images  Section images heterozygote 50% (2 of 4)
Trachea  Wholemount images  Section images heterozygote 75% (3 of 4)
Trigeminal V nerve  Section images heterozygote 25% (1 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

35 Images

Adult LacZ

LacZ Images Section

114 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Pcgf2 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.

The table below shows human diseases associated to Pcgf2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Clinodactyly, Intrauterine growth retardation, Short sternum, Tapered fi... OMIM:618371

The table below shows human diseases predicted to be associated to Pcgf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Severe short stature, Disproportionate short-trunk short stature, Ba... OMIM:277300
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Disproportionate short-trunk short stature, Vertebral segmentatio... OMIM:608681
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency 8
Lymphopenia OMIM:615401
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Short thorax, Abnormal rib morphology, Short stature, Vertebral fu... OMIM:613686
Spondylocostal Dysostosis 5
Missing ribs, Supernumerary ribs, Short neck, Severe short stature, Posterior rib fusion, Disprop... OMIM:122600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Intrauterine growth retardati... ORPHA:1797
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... OMIM:611702
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Chondrocalcinosis Due To Apatite Crystal Deposition
Costochondral pain, Osteoarthritis of the small joints of the hand, Chondrocalcinosis, Costal car... OMIM:118610
Poland Syndrome
Short ribs, Unilateral brachydactyly, Sprengel anomaly, Unilateral oligodactyly, Hemivertebrae, R... OMIM:173800
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Severe short stature, Irregular patellae, Osteoporotic metatarsal, Metaphy... OMIM:609052
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Disproportionate short ... ORPHA:1354
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Abnormal form of the ... ORPHA:1801
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Immunodeficiency 19
Lymphopenia OMIM:615617
Metatropic Dysplasia
Abnormal cortical bone morphology, Kyphosis, Abnormal form of the vertebral bodies, Camptodactyly... ORPHA:2635
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectu... ORPHA:64755
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Autosomal Recessive Spondylocostal Dysostosis
Short neck, Short thorax, Kyphosis, Abnormal form of the vertebral bodies, Camptodactyly of finge... ORPHA:2311
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Cervical ribs, Radial deviation of finger, Syndactyly, Short sta... OMIM:148050
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Restricted large joint movement, Bilateral coxa valga, Abnormal verteb... ORPHA:163665
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Severe short stature, Platyspondyly, Flared, irregular rib ends, Limitation of joint ... ORPHA:168555
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Intrauterine growth retardation, Posterior rib fusion, Pectus excavatum, Abnormal rib cage morpho... OMIM:608406
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Bowing of the long bones, Ovoid vertebral bodies, Kyphosis, Abnormal form of the v... ORPHA:40
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasia ... ORPHA:168549
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Joint laxity, Cone-shaped epiphysis, Scoliosis, Pseudoepiphyses... OMIM:157800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Short femoral neck, Rhizomelia, Proximal femoral metaphyseal irregularity, ... OMIM:602271
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Sprengel Deformity
Scoliosis, Sprengel anomaly, Spina bifida occulta, Cervical segmentation defect, Hemivertebrae, R... OMIM:184400
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Metaphyseal widening, Short ribs, Irregular chondrocostal junctions, Hypoplastic... OMIM:187760
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Carpal bone hypoplasia, Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femor... OMIM:618395
Cerebrofaciothoracic Dysplasia
Short neck, Bifid ribs, Scoliosis, Short stature, Sprengel anomaly, Narrow chest, Vertebral segme... ORPHA:1394
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ... OMIM:151210
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Diastrophic Dysplasia
Abnormal rib morphology, Scoliosis, Hip dysplasia, Bowing of the long bones, Increased bone miner... ORPHA:628
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Wormian bones, Kyphosis, Rec... OMIM:259420
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... ORPHA:239
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Severe sho... OMIM:184250
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Juberg-Hayward Syndrome
Toe syndactyly, Intrauterine growth retardation, Hammertoe, Severe short stature, Short thumb, Ab... ORPHA:2319
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:1486
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multiplex congenita, Rib fusi... OMIM:265000
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Short stature, Bow... OMIM:615220
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Abnormality of epiphysis morphology, Rhizomelia, Decreased ... ORPHA:93267
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Abnormal rib ca... OMIM:184252
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Seve... OMIM:187600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Disproportionate short-trunk short stature, Barrel-shaped chest, Hyp... OMIM:200610
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Block vertebrae, Short neck, Short ribs, Thin ribs, Supernumerary vertebrae, Scolio... OMIM:271520
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Fibrochondrogenesis
Brachydactyly, Short neck, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short ... ORPHA:2021
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormality of the humeroulnar joint, Abnormal form of the vertebral bodies, Abnormal... ORPHA:2234
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... OMIM:228520
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Bifid distal phalanx of toe, Scoliosis, Vertebral fusion, Small hand,... OMIM:268310
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Short neck, Kyphosis, Hyperlordosis, Abnormal clavicle morphology, ... ORPHA:2522
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thi... OMIM:300863
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hypoplastic scapulae, Decreased skull ossification, H... OMIM:200600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Pear-shaped verteb... OMIM:602111
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Disproportionate short-tru... OMIM:223800
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Short stature, Diaphyseal thickening, Abnormal rib morphology ORPHA:1513
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:300853
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short neck, Disproportionate short-limb short statu... ORPHA:1803
Pontine Tegmental Cap Dysplasia
Scoliosis, Hemivertebrae, Rib fusion, Ankle clonus OMIM:614688
Autosomal Recessive Multiple Pterygium Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Pterygium, Popliteal pteryg... ORPHA:2990
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Thin b... ORPHA:85184
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Multiple prenatal fractures, Decreased skull ossification, Scol... OMIM:610915
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Spondylometaphyseal Dysplasia, Kozlowski Type
Coronal cleft vertebrae, Abnormality of the vertebral column, Genu varum, Abnormal ilium morpholo... ORPHA:93314
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Short neck, Hypoplastic vertebral b... ORPHA:2347
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... OMIM:166210
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center, B lymphocytope... ORPHA:277
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae ORPHA:1436
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Cone-shaped capital femoral epiphysis, Metaphyseal widening, Brachydactyly, Thoracic kyphosis, Sh... OMIM:300232
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short neck, Short thorax, Kyphosis, Abnormality of epiphysis morphology... ORPHA:582
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal enchondral ossification, Severe short stature, Abnormal rib mo... ORPHA:93298
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Irregular femoral epiphysis, Short stature, Bell-shaped thorax, Pectus carinat... OMIM:255710
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Joint hyperflexibility, Craniofacial hyperost... ORPHA:2484
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Decreased circula... OMIM:607594
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Hypogonadism, Pure red cell aplasia OMIM:618165
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Abnormal vertebral morphology, Hand polydactyly, Scoliosis, Rib fusion ORPHA:261197
Cog1-Cdg
Irregularity of vertebral bodies, Short neck, Osteopenia, Coxa valga, Short long bone, Rhizomelia... ORPHA:263508
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Microphthalmia, Syndromic 3
Supernumerary ribs, Vertebral hypoplasia, Missing ribs, Short stature, Vertebral fusion, Butterfl... OMIM:206900
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short neck, Short femoral neck, Short ribs, Rhizomelia, Scoliosis... OMIM:610319
Holt-Oram Syndrome
Absent thumb, Kyphosis, Phocomelia, Joint stiffness, Finger syndactyly, Triphalangeal thumb, Abno... ORPHA:392
Three M Syndrome 1
Short neck, Short thorax, Slender long bone, Increased vertebral height, Short ribs, Clinodactyly... OMIM:273750
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Intrauterine growth retardation, Rhizomelia, Thin ribs, Metaphyseal chondrodysplasia,... ORPHA:163966
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Joint disl... ORPHA:2097
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Craniosynostosis, Short neck, Sacral dimple, Beaking of vertebral bodies, Joint hypermobility, Bi... OMIM:213980
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Vertebral compression fracture, Rhizomelia, Joint hypermobility, Beaded ribs OMIM:616229
3M Syndrome
Horizontal ribs, Clinodactyly of the 5th finger, Scoliosis, Enlarged thorax, Scapular winging, Hy... ORPHA:2616
Congenital Disorder Of Glycosylation, Type Iig
Short neck, Osteopenia, Intrauterine growth retardation, Rhizomelia, Abnormal rib morphology, Sco... OMIM:611209
Mucopolysaccharidosis, Type Iva
Kyphosis, Ovoid vertebral bodies, Coxa valga, Cervical subluxation, Hypoplasia of the odontoid pr... OMIM:253000
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Craniometadiaphyseal Dysplasia
Genu varum, Wormian bones, Osteopenia, Coxa valga, Sclerosis of skull base, Flared metaphysis, Sc... OMIM:269300
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Bowing of the arm, Wormian bones, Coxa valga, Recurrent fractures, Osteoporos... OMIM:619131
Osteogenesis Imperfecta, Type Vii
Bowing of the legs, Decreased calvarial ossification, Wormian bones, Osteopenia, Vertebral compre... OMIM:610682
Cole-Carpenter Syndrome
Bowing of the long bones, Wormian bones, Kyphosis, Abnormal form of the vertebral bodies, Recurre... ORPHA:2050
Femoral-Facial Syndrome
Missing ribs, Scoliosis, Hemivertebrae, Short fifth metatarsal, Rib fusion, Short third metatarsa... OMIM:134780
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Absent or minimally ossified vertebral bodies, Narrow pel... ORPHA:66637
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Short neck, Kyphosis, Hip osteoarthritis, Short femoral neck, Shield chest, ... OMIM:313400
Becker Nevus Syndrome
Scoliosis, Cervical ribs, Hemivertebrae, Pectus excavatum OMIM:604919
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Kyphosis, Short neck, Abnormality of epiphysis morphology, Metatarsus valgus, Apl... ORPHA:3082
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Kyphosis, Short neck, Joint stiffness, Flared iliac wing, Hyperlo... OMIM:252605
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Abnormal form of the vertebral bodies, Sandal gap, Abnormal rib morphology, Scolio... ORPHA:2180
Mucopolysaccharidosis, Type Ivb
Kyphosis, Ovoid vertebral bodies, Coxa valga, Cervical subluxation, Hypoplasia of the odontoid pr... OMIM:253010
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Narrow iliac wing, Genu varum, Scoliosis, Metaphyseal widening, Genu valgum, Brachyd... OMIM:250420
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Phaver Syndrome
Joint stiffness, Abnormal form of the vertebral bodies, Pterygium, Intrauterine growth retardatio... ORPHA:2876
Dysosteosclerosis
Narrow iliac wing, Hypoplastic vertebral bodies, Sclerosis of hand bone, Broad femoral neck, Disp... OMIM:224300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Leukopenia, Hepatosplenomegaly,... OMIM:618986
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Achondrogenesis Type 1A
Short neck, Short thorax, Abnormal enchondral ossification, Recurrent fractures, Short palm, Seve... ORPHA:93299
Mosaic Trisomy 14
Narrow chest, Short neck, Camptodactyly of finger, Abnormal rib morphology ORPHA:1703
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Abnormal rib mo... OMIM:118100
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Intrauterine growth retardation, Radial head subluxat... OMIM:146510
Aicardi Syndrome
Missing ribs, Block vertebrae, Supernumerary ribs, Bifid ribs, Scoliosis, Small hand, Butterfly v... ORPHA:50
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Sprengel anomaly, Spi... ORPHA:2475
Cole-Carpenter Syndrome 2
Narrow iliac wing, Lambdoidal craniosynostosis, Wormian bones, Kyphosis, Osteopenia, Coronal cran... OMIM:616294
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Scoliosis, Proximal placemen... ORPHA:1488
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Irregular acetabular roof, Beaking of v... OMIM:619698
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Anterior rib cupping, Short greater sciati... OMIM:184253
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5th finger, Scoliosis, Death in inf... ORPHA:1507
Baller-Gerold Syndrome
Carpal synostosis, Scoliosis, Carpal bone aplasia, Bicoronal synostosis, Aplasia of metacarpal bo... OMIM:218600
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Abnormal rib... ORPHA:2759
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Severe short stature, Narrow vertebral interpedicular distance, Disproportionate shor... ORPHA:93352
Aicardi Syndrome
Missing ribs, Block vertebrae, Supernumerary ribs, Bifid ribs, Scoliosis, Proximal placement of t... OMIM:304050
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Intrauterine growth retardation, Abnormality of fibula morphology, Tibi... ORPHA:3035
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Wormian bones, Vertebral compression fracture... OMIM:617952
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Testicular atrophy, Cirrhosis, Thrombocytopenia OMIM:613987
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation,... ORPHA:1506
Greenberg Dysplasia
Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Short stature, Sprengel anomaly, Abnormal rib morphology OMIM:601076
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Three M Syndrome 2
Clinodactyly, Short neck, Short thorax, Intrauterine growth retardation, Severe short stature, Th... OMIM:612921
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Slender long bone, Abnormal form of the vertebral bodies, Generalized bone demineralization, Thin... ORPHA:73230
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Hypoplastic pubic rami, Kyphosis, Abnormal form of the verte... ORPHA:280
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Sprengel anomaly, Fused cervical vertebrae OMIM:214300
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachydactyly, Short ... OMIM:611717
Opsismodysplasia
Hypoplastic ischia, Anterior rib cupping, Short neck, Posterior rib cupping, Hypoplastic vertebra... OMIM:258480
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Bell-... OMIM:615633
Otopalatodigital Syndrome, Type Ii
Short thumb, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs, Spondylolysis... OMIM:304120
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis OMIM:309620
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Desbuquois Dysplasia 2
Genu varum, Radial head subluxation, Severe short stature, Metaphyseal widening, Narrow chest, Br... OMIM:615777
Autosomal Recessive Kenny-Caffey Syndrome
Thin long bone diaphyses, Intrauterine growth retardation, Thin ribs, Decreased skull ossificatio... ORPHA:93324
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Ovoid vertebral bodies, Joint stiffness, Flared iliac wing, Split hand,... OMIM:253200
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, Osteoporosis,... OMIM:235200
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Short thumb, Abnormal rib morphology, Short dista... ORPHA:1120
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Intrauterine growth retardation, Thin ribs, Increased susceptibility to frac... OMIM:312150
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Shallow acetabular fossae, Short long bone, Short ribs, Scoliosis, Short statur... OMIM:252600
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Short neck, Prominent metopic ridge, Broad hallux, Growth delay, Postnatal growth ... OMIM:614541
Holzgreve Syndrome
Abnormality of the ulna, Joint stiffness, Intrauterine growth retardation, Hand polydactyly, Abno... ORPHA:2167
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Clinodactyly of the 3rd toe, Asymmetry of the thorax, Delayed closure of the anter... OMIM:604922
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Tapered finger, Tapered toe, Rib fusion ORPHA:544488
Mucopolysaccharidosis Type 6
Short neck, Kyphosis, Ovoid vertebral bodies, Joint stiffness, Disproportionate short-trunk short... ORPHA:583
X-Linked Hypophosphatemia
Genu varum, Upper limb metaphyseal widening, Rachitic rosary, Disproportionate short stature, Fla... ORPHA:89936
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Disproportionate short-trunk short stature, Dispropo... ORPHA:485
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Craniofacial hyperostosis, Clinodactyly of the 5th finger, Hyperlor... ORPHA:3068
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Joint stiffness, Severe short stature, Intrau... OMIM:230500
Cat-Eye Syndrome
Short stature, Hip dysplasia, Intrauterine growth retardation, Abnormal rib morphology ORPHA:195
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Intrauterine growth retardation, Thin ribs, Increased susceptibility to frac... OMIM:253290
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Ankle flexion contracture, Knee flexion contracture, Hip contracture, Ar... ORPHA:1145
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Intrauterine growth retardation, Abnormality of epiphysis morphology, Severe short... ORPHA:2643
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Butterfly vertebrae, Hypoplasia of the ulna, Short neck, Kyphosis, Finger syn... ORPHA:958
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Thoracic platyspondyly, Sandal gap, Disproportionate ... OMIM:619636
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Osteopenia, Vertebral compression fracture, Thin ribs, Joint laxity, Ge... OMIM:613848
Short Stature And Facioauriculothoracic Malformations
Cervical ribs, Short neck, Pectus excavatum, Abnormality of the odontoid process, Pectus carinatu... OMIM:609654
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... OMIM:600081
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
Hypophosphatasia, Infantile
Bowing of the legs, Decreased calvarial ossification, Vertebral clefting, Craniosynostosis, Dispr... OMIM:241500
Spondyloepimetaphyseal Dysplasia, X-Linked
Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses, Disproportionate short-tr... OMIM:300106
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short neck, Flexion contracture, Multiple prenatal fractures, Osteopenia, Short ri... OMIM:616897
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... ORPHA:3258
Cleidocranial Dysplasia
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Osteoporosis, Decrease... ORPHA:1452
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Partial fusion of tarsals, Coxa... OMIM:305620
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Severe short stature, Metaphyseal spurs, Scoliosis, Narrow greater sciatic notch, Br... ORPHA:85167
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Leukopenia, Cryptorchidism, Radial club hand, Shawl sc... OMIM:617053
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
Wolf-Hirschhorn Syndrome
Short thumb, Scoliosis, Vertebral fusion, Hip dysplasia, Rib fusion, Hip dislocation, Intrauterin... OMIM:194190
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Intrauterine growth retardation, Recurrent fractures, Abnormal ... ORPHA:2772
Zttk Syndrome
Cervical ribs, Kyphosis, Flexion contracture, Craniosynostosis, Intrauterine growth retardation, ... OMIM:617140
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short palm, Short metacarpal, Rhizomelic arm shortening, Abnormal scapula morphology, Cone-shaped... ORPHA:93317
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Pectus exc... OMIM:602196
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Short neck, Abnormal form of the vertebral bodies, Abnormality of pelvic girdle bon... ORPHA:1834
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:276
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Recurrent fractures, Abnormal rib morphology, Short s... ORPHA:436
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... OMIM:619752
Robinow Syndrome
Brachydactyly, Missing ribs, Radioulnar dislocation, Bifid distal phalanx of the thumb, Fused tho... ORPHA:97360
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Scoliosis, Thickened ribs OMIM:252900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Disproportionate short stature, ... OMIM:250220
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Splenomegaly, Lymphopenia OMIM:605309
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased proportion of CD3-po... ORPHA:169160
Immunodeficiency 36
Decreased circulating antibody level, Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, Abn... ORPHA:1318
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Aplasia of the thymus, Reduced delayed hypersensitivity, Lymphopenia, Abnorma... OMIM:242700
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, 11 pairs of ribs, Thoracic platyspondyly, Narrow c... OMIM:108720
Kyphomelic Dysplasia
Anterior rib cupping, Pterygium, Lateral clavicle hook, Undulate ribs, Short metacarpal, Tibial b... OMIM:211350
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Intrauterine growth retardation, Short metacarpal, Clinodactyly of the 5th finger,... OMIM:617604
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Splenomegaly, Decreased circulating IgA level, Impaired T cell f... OMIM:240500
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Intrauterine growth retardation, Absent radius, Oligodactyly, Abnor... OMIM:251230
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Familial Osteodysplasia, Anderson Type
Missing ribs, Kyphosis, Abnormal form of the vertebral bodies, Recurrent fractures, Clinodactyly ... ORPHA:2769
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Radial head subluxation, Severe short stature, 11 pairs of ribs, ... OMIM:271640
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune thrombocytopenia, Au... OMIM:616100
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Intrauterine growth retardation, Abnormal rib... ORPHA:2145
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Abnormality of pelvic girdle bone morphology, Short palm, Hypo... OMIM:250250
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness, Thickened ribs OMIM:252920
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Pyknoachondrogenesis
Abnormal intramembranous ossification, Horizontal ribs, Hypoplastic ischia, Short long bone, Shor... ORPHA:3003
Cantú Syndrome
Short neck, Ovoid vertebral bodies, Coxa valga, Finger syndactyly, Short hallux, Osteoporosis, Pl... ORPHA:1517
Kenny-Caffey Syndrome, Type 1
Short palm, Proportionate short stature, Delayed closure of the anterior fontanelle, Intrauterine... OMIM:244460
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing ribs, Finger symphalangism, A... ORPHA:2911
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Broad long bones, Bowing of the legs, Short ribs, Short phalanx of finger, Flared meta... OMIM:271665
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae OMIM:618469
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Stuve-Wiedemann Syndrome 1
Osteoporosis, Scoliosis, Short tibia, Bowing of the long bones, Short neck, Metaphyseal rarefacti... OMIM:601559
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Metaphyseal widening, Fi... OMIM:613091
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Kyphoscoliosis, Thickened ribs OMIM:252930
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Abnorma... ORPHA:249
Mosaic Trisomy 8
Short neck, Camptodactyly of finger, Clinodactyly of the 5th finger, Abnormal rib morphology, Sco... ORPHA:96061
Prune Belly Syndrome
Congenital hip dislocation, Abnormal rib morphology, Pectus excavatum, Scoliosis, Vertebral segme... ORPHA:2970
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Flaring of rib cage, Osteomyelitis, Osteolysis, Fused cervical vertebrae... OMIM:612852
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... OMIM:241530
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Abnormal CD4:CD8 ratio, Lack of T cell function, Autoimmune thro... ORPHA:572
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Micropenis, Decreased skull ossification OMIM:602361
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... OMIM:269500
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Short neck, Intrauterine growth retardation, Clinodactyly of t... OMIM:616145
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... ORPHA:3320
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic vertebral bodies, Joint hypermobility, Pectus excavatum, Short stature, H... OMIM:114620
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Hurler Syndrome
Short neck, Abnormality of epiphysis morphology, Abnormal vertebral morphology, Abnormal clavicle... ORPHA:93473
Renpenning Syndrome
Abnormal thumb morphology, Joint stiffness, Severe short stature, Clinodactyly of the 5th finger,... ORPHA:3242
Radio-Renal Syndrome
Brachydactyly, Short neck, Short palm, Abnormal form of the vertebral bodies, Severe short statur... ORPHA:3015
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the vertebral column, Abnormal vertebral morphology, Abnormal rib morphology, Scol... OMIM:308205
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short ribs, Thin ribs, Narrow chest, Femoral bowing OMIM:618188
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Abnormal rib cage morpho... OMIM:224690
Alagille Syndrome
Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Intrauterine growth retardation, C... ORPHA:52
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Short neck, Intrauterine growth retardation, Overlapping fingers, Adducted th... OMIM:617022
Mucopolysaccharidosis, Type Vii
Short neck, Kyphosis, Flexion contracture, Joint stiffness, Anterior beaking of lumbar vertebrae,... OMIM:253220
Trisomy 13
Abnormality of pelvic girdle bone morphology, Kyphosis, Intrauterine growth retardation, Abnormal... ORPHA:3378
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... OMIM:264700
Shwachman-Diamond Syndrome 1
Enlargement of the costochondral junction, Anterior rib cupping, Ovoid vertebral bodies, Metaphys... OMIM:260400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Infertility, Portal hypertension, Hypothyroidism, Amenorrhea, Chol... ORPHA:465508
Shprintzen-Goldberg Craniosynostosis Syndrome
Supernumerary ribs, Craniosynostosis, Osteopenia, Lateral clavicle hook, Thin ribs, Joint laxity,... OMIM:182212
Marden-Walker Syndrome
Short neck, Kyphosis, Intrauterine growth retardation, Joint contracture of the hand, Radioulnar ... OMIM:248700
1P36 Deletion Syndrome
Brachydactyly, Kyphosis, Foot polydactyly, Joint stiffness, 11 pairs of ribs, Clinodactyly of the... ORPHA:1606
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Hypoplastic pubic bone, Short neck, Short long... OMIM:617925
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormality of pelvic girdle bone morphology, Short neck, Rhizomelia, Epiphyseal stippling, Abnor... OMIM:302960
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Joint hypermobility, Pectus excavatum, Scapular winging, Six lumbar vertebrae OMIM:619122
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Elbow flexion contracture, Hy... OMIM:200980
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Genu varum, Enlargement of the costochondral junction, Sparse bone tra... ORPHA:289157
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Craniosynostosis, Thin ribs, Short stature, Arthrogryposis multiplex congenita OMIM:618265
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Polydactyly, Scoliosis, Postnatal growth retardation, Vertebral segmentation de... ORPHA:531151
Occipital Horn Syndrome
Kyphosis, Coxa valga, Joint laxity, Osteoporosis, Platyspondyly, Pectus excavatum, Limited elbow ... OMIM:304150
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Decreased skull ossification, Testicular atrophy OMIM:601163
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Hypoplasia of the radius, Post... OMIM:617895
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Poorly ossified cervical vertebra... OMIM:114290
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of ... OMIM:109400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hyperextensibility at elbow, Absent thumb, Cervical ribs, Intrauterine growth retardation, Propor... ORPHA:500150
Schwartz-Jampel Syndrome
Abnormally straight spine, Osteoporosis, Abnormal rib morphology, Protrusio acetabuli, Scoliosis,... ORPHA:800
Chromosome 1P36 Deletion Syndrome, Distal
Brachydactyly, Delayed closure of the anterior fontanelle, 11 pairs of ribs, Clinodactyly of the ... OMIM:607872
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Vacterl/Vater Association
Abnormal sacrum morphology, Finger syndactyly, Intrauterine growth retardation, Abnormal rib morp... ORPHA:887
Xylt1-Cdg
Clinodactyly, Short long bone, Coxa valga, Short femoral neck, Joint laxity, Joint dislocation, G... ORPHA:370930
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Finger syndactyly, Severe short stature, Tapered finger, Abnormal rib morphology, Pectu... ORPHA:2215
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Abnormal rib morphology, Scoliosis, Narrow chest, Brachydactyly, Bowing of the long... ORPHA:95699
Osteogenesis Imperfecta
Fractures of the long bones, Cervical kyphosis, Abnormal hip bone morphology, Osteoporosis, Decre... ORPHA:666
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Abnormality of the costochondral... ORPHA:96334
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Increased bone mineral d... ORPHA:90652
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Short stature, Shor... OMIM:612447
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Pallister-Hall Syndrome
Distal arthrogryposis, Mesoaxial polydactyly, Radial head subluxation, Supernumerary metacarpal b... ORPHA:672
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... OMIM:210720
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Weill-Marchesani Syndrome 1
Brachydactyly, Joint stiffness, Broad metatarsal, Thin bony cortex, Lumbar hyperlordosis, Scolios... OMIM:277600
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Joint stiffness, Finger syndactyly, Popliteal pterygium, Abnormal rib morphology,... ORPHA:1300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Cleidocranial Dysplasia
Short middle phalanx of the 2nd finger, Hypoplastic iliac wing, Scoliosis, Narrow chest, Abnormal... OMIM:119600
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Abnormality of B cell phy... OMIM:613179
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Thin ribs, Lumbar hemivertebrae, Abnormal bone ossification, Thin metatarsal cortices... ORPHA:2463
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Reduced antigen-specific T cell proliferation, Leukopenia, Decre... ORPHA:443811
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Missing ribs, Abnormally ossified vertebrae, Abnormal ri... ORPHA:3301
Renal Dysplasia-Limb Defects Syndrome
Short neck, Phocomelia, Intrauterine growth retardation, Short sternum, Short ribs, Thin ribs, Sh... OMIM:266910
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Recurrent fractures, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
Kagami-Ogata Syndrome
Flexion contracture, Coxa valga, Thin ribs, Long fingers, Long clavicles, Bell-shaped thorax, Kyp... OMIM:608149
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Horizontal ribs, Neonatal short-limb short stature, Sh... OMIM:225500
Mucopolysaccharidosis, Type Iiid
Achilles tendon contracture, Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Short neck, Joint... OMIM:252940
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Irregular epiphyses, Hypoplasia of the ulna, Foot polydactyly, Me... OMIM:208500
Myhre Syndrome
Brachydactyly, Joint stiffness, Short palm, Abnormality of epiphysis morphology, Intrauterine gro... ORPHA:2588
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Large joint dislocations, Osteoporosis, S... ORPHA:536467
Aarskog-Scott Syndrome
Short neck, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decrea... OMIM:305400
Gm1 Gangliosidosis Type 1
Short long bone, Spatulate ribs, Intrauterine growth retardation, Hypoplastic vertebral bodies, F... ORPHA:79255
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Absent microvilli on the surfac... OMIM:600903
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Joint stiffness, Delayed closure of the anterior fontanelle, Thin ribs, Oste... OMIM:614008
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Disproportionate shortening of the tibia, Short long bone, Short ...