Gene Summary

Name:
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3
Synonyms:
3830408D16Rik,  2610012I03Rik,  Af9,  D4Ertd321e,  2210011H10Rik

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
preweaning lethality, complete penetrance Mllt3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased total body fat amount Mllt3tm1b(EUCOMM)Hmgu HET Early adult 3.28×10-05
thrombocytopenia Mllt3tm1b(EUCOMM)Hmgu HET Early adult 1.30×10-08
abnormal clavicle morphology Mllt3tm1b(EUCOMM)Hmgu HET   Early adult 5.44×10-05
decreased kidney weight Mllt3tm1b(EUCOMM)Hmgu HET Early adult 1.38×10-06
increased circulating amylase level Mllt3tm1b(EUCOMM)Hmgu HET Early adult 4.17×10-07
hyperactivity Mllt3tm1b(EUCOMM)Hmgu HET   Early adult 9.15×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 75% (3 of 4)
Hippocampus  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 50% (2 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 100% (4 of 4)
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Stomach  Wholemount images heterozygote 75% (3 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote Not available
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote Not available
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote Not available
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote Not available
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote Not available
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Mllt3 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.

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

The table below shows human diseases predicted to be associated to Mllt3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Kyphoscol... OMIM:277300
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis OMIM:214300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... ORPHA:1436
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Delayed s... ORPHA:3268
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Fused cervical vertebrae, Kyphosis, Abnormal rib ... ORPHA:2522
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metop... OMIM:309620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Absent phalangeal crease, Antecubital pterygium, Fused cervical vertebrae, Sho... OMIM:618469
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... ORPHA:1354
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... OMIM:611702
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Myelomeningocele, Missing r... OMIM:613686
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... OMIM:135100
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... ORPHA:71289
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... OMIM:609052
Kniest Dysplasia
Short thorax, Abnormal bone structure, Short long bone, Coronal cleft vertebrae, Vertebral wedgin... ORPHA:485
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Atelosteogenesis, Type I
Distal tapering femur, Short metatarsal, Neonatal death, 11 pairs of ribs, Short humerus, Short f... OMIM:108720
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral fusion, Short long bone, Short thorax, Sacral dimple, Vertebral segme... OMIM:618845
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... OMIM:157800
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Long phalanx of finger, Coxa... OMIM:305620
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral segmentation ... ORPHA:66637
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Wildervanck Syndrome
Meningocele, Short neck, Fused cervical vertebrae ORPHA:3456
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Abnormality of limb ... OMIM:118100
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abnormal form of the verte... ORPHA:1801
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Lamb-Shaffer Syndrome
Hip dysplasia, Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... ORPHA:2635
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Acetabular dysplasia, Short neck, Thoracolu... OMIM:616549
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Abnormality of the knee, Abnormal vertebral morphology, Restricted lar... ORPHA:163665
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short dist... OMIM:184460
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Platyspondyly, Coxa vara, Short palm, Limitation of joint mobility ORPHA:168555
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Flaring of rib cage, Broad ribs... OMIM:612852
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Stil... OMIM:269250
Brachyolmia, Maroteaux Type
Pectus excavatum, Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Scoliosis ORPHA:93302
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... ORPHA:93304
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Pectus excavatum, Short lower limbs, Pectus carinatum, Multiple... OMIM:259440
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Flat capital femoral epiphysis, Abno... OMIM:614135
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Bowing of the legs,... OMIM:608728
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina bifida occult... ORPHA:1797
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... OMIM:113000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Pectus carinatum, Craniosyno... OMIM:178110
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Umbilical hernia, Dysplastic patella, Patellar aplasia, Neck pterygia, Rocker bottom ... OMIM:265000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... ORPHA:93351
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hypoplastic il... OMIM:187760
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic iliac wing, Enlarged meta... OMIM:609616
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinatum, Short me... OMIM:271650
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... OMIM:601376
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Malaria
Gait imbalance, Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circu... ORPHA:673
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Anterior rib cupping, Platyspondy... OMIM:602271
Kbg Syndrome
Vertebral fusion, Radial deviation of finger, Cervical ribs, Vertebral arch anomaly, Thoracic kyp... OMIM:148050
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Fused cervical vertebrae, Sprengel anomaly, Spina bifida o... OMIM:619227
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187600
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Irregular vertebral endplates, Multiple joint dislocation, Tapered f... OMIM:618395
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Thoracic hypoplasia, Knee dislocation, Small epiphyses, Coxa valga, Hip contracture, Coronal clef... OMIM:618363
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... OMIM:604864
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Abnormal clavicle morphology, Abnormal form of the vertebral b... ORPHA:1149
Pseudoachondroplasia
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short phal... OMIM:274000
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Coxa vara, Flared met... OMIM:184252
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Death in infancy, Increased intervertebral space, Coronal cleft vertebrae, H... OMIM:256050
Dk Phocomelia Syndrome
Thrombocytopenia, Phocomelia OMIM:223340
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Anterior rib cupping, Metaphyseal dappling, Pectus carinatum, Delayed pubic bo... OMIM:184250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Short ribs, Severe platyspondyly, Disc-like vertebral bodies, Nar... OMIM:151210
Ring Chromosome 21 Syndrome
Small hand, Abnormal thorax morphology, Clinodactyly, Syndactyly, Thoracic hemivertebrae, Fused t... ORPHA:1445
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, Spinal canal stenosis, Pectus excavatum, 2-3 toe syndactyly, V... OMIM:263540
Achondrogenesis, Type Ii
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Short ribs, Stillbirth, Absent vertebr... OMIM:200610
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre... OMIM:615220
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Poland Syndrome
Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Uni... OMIM:173800
Frontometaphyseal Dysplasia
Short metatarsal, Joint contracture of the hand, Progressive bowing of long bones, Camptodactyly ... ORPHA:1826
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Otopalatodigital Syndrome Type 1
Short hallux, Abnormal vertebral segmentation and fusion, Bowing of the long bones, Synostosis of... ORPHA:90650
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Clinodactyly, Short 5th finger, Hip dislocation, Short neck, Sco... OMIM:615583
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Pectus carina... ORPHA:313892
Mosaic Trisomy 20
Limited pronation/supination of forearm, Spinal canal stenosis, Vertebral fusion, Clinodactyly, K... ORPHA:1724
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... ORPHA:93315
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, Joint dislocati... OMIM:312150
Kbg Syndrome
Vertebral fusion, Cutaneous syndactyly, Cervical ribs, Thoracic kyphosis, Delayed skeletal matura... ORPHA:2332
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Diastrophic Dysplasia
Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of the hand, Proxima... ORPHA:628
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypo... OMIM:608940
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Anisospondyly, Short long bone OMIM:224410
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of epiphysis morphology, Abnormal clavicle morphology, Bowing of the long bones, Plat... ORPHA:93267
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:1486
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the elbow, Abnormal vertebral morphology, Hammertoe, Hypoplasia of... ORPHA:2319
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, Joint dislocati... OMIM:253290
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Clinodactyly ... OMIM:244600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Femoral bowing, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Pear-shaped vert... OMIM:602111
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal, Short thumb, Absent thu... OMIM:609053
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Wt Limb-Blood Syndrome
Hypoplastic anemia, Ulnar deviation of the 3rd finger, Radioulnar synostosis, Leukemia, Short thu... OMIM:194350
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Short thorax,... ORPHA:239
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hypoplastic ilia, Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vertebral b... ORPHA:93359
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Vertebral wedging, Pectus carinatum, Increased suscep... OMIM:259450
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Arthrogryposis multiplex congenita, Abnormal thorax morphology... OMIM:253310
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae OMIM:604919
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:606612
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Broad hallux, Thoracic scoliosis, Hip dislocation, Spina bifida, Short neck, ... ORPHA:508498
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Hyperactivity, Clinodactyly OMIM:608747
Holt-Oram Syndrome
Pectus excavatum, Triphalangeal thumb, Phocomelia, Abnormal clavicle morphology, Aplasia/Hypoplas... ORPHA:392
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Thin ribs, Missing ribs, Short ribs, Supernumerary vertebrae, Bl... OMIM:271520
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal end... OMIM:144750
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Short ribs, Narrow chest, Umbilical he... OMIM:600972
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... OMIM:171480
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Congenital Disorder Of Glycosylation, Type Iik
Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, Epiphyseal dysplasia, ... OMIM:614727
Femoral-Facial Syndrome
Abnormal sacrum morphology, Sprengel anomaly, Coxa vara, Hip dysplasia, Abnormal rib morphology, ... ORPHA:1988
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Patellar disloc... ORPHA:2916
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... ORPHA:268882
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Platyspondyly, Decreased s... OMIM:300863
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed skeletal maturation, Small epiphyses, Anterior rib cupping, Metaphyseal cupping of metaca... OMIM:300232
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Vertebral compression fracture, Beaded ribs, Osteopenia OMIM:616229
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Abnormal form of the vertebral bodies, Abnor... ORPHA:2234
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Thin bony cortex, Thin ribs, Bowing of the long bones, Wormian bones,... OMIM:617952
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the long ... ORPHA:582
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Abnormal rib ... ORPHA:2180
Fibrochondrogenesis 1
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Anterior... OMIM:228520
Myotonia With Skeletal Abnormalities And Mental Retardation
Pectus carinatum, Vertebral wedging, Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Irregular f... OMIM:255710
Aarskog-Scott Syndrome
Pectus excavatum, Abnormal vertebral segmentation and fusion, Small hand, Abnormality of the cerv... ORPHA:915
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Pancytopenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, ... OMIM:159550
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta ORPHA:2956
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Platyspondyly, Wormian bones, Mu... OMIM:166210
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Becker Nevus Syndrome
Abnormality of tibia morphology, Pectus excavatum, Pectus carinatum, Kyphosis, Supernumerary ribs... ORPHA:64755
Gorlin Syndrome
Vertebral fusion, Hemivertebrae, Vertebral wedging, Arachnodactyly, Scoliosis, Brachydactyly ORPHA:377
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Shield chest, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyp... OMIM:313400
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,... ORPHA:474
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Abnormal rib morphology, Delayed skeletal maturation, Clinod... ORPHA:2475
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Hypoplasia of the radius, Fused cervical verteb... OMIM:607323
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Short metatarsal, Prominent calcaneus, Brachydactyly, Iliac crest serra... OMIM:223800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspondyly, Vertebral h... OMIM:602557
Melnick-Needles Syndrome
Short clavicles, Abnormality of the pubic bone, Bowing of the long bones, Short thorax, Abnormali... ORPHA:2484
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Short thumb, Duplication of thumb phalanx, Thrombocytopenia OMIM:616435
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Meningocele, Pectus excavatum, Vertebral fusion, Sclerosis of skull b... OMIM:130720
Osteogenesis Imperfecta, Type Xxi
Pectus excavatum, Bowing of the legs, Osteoporosis, Wormian bones, Platyspondyly, Joint hypermobi... OMIM:619131
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Thin ribs, Abnormality of the calcaneus, Hypoplastic iliac wing, Metaphyseal cu... ORPHA:163966
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Brachydactyly DECIPHER:8
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Rib ... ORPHA:2311
Osteogenesis Imperfecta, Type Vi
Biconcave vertebral bodies, Beaking of vertebral bodies, Increased susceptibility to fractures, C... OMIM:613982
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253000
Phaver Syndrome
Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Myelomeningocele, Ulnar deviation... ORPHA:2876
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Tibial bowing, Thin ribs, Wormian b... OMIM:259420
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Arachnodactyly, Abnormal rib ... ORPHA:2759
Thakker-Donnai Syndrome
Short neck, Cervical C2/C3 vertebral fusion, Hemivertebrae ORPHA:1780
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Short ribs, Short hu... OMIM:610319
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Spondylocarpotarsal Synostosis Syndrome
Capitate-hamate fusion, C2-C3 subluxation, Epiphyseal dysplasia, Limited elbow extension, Delayed... OMIM:272460
Fanconi Anemia, Complementation Group G
Neutropenia, Leukemia, Anemia, Abnormal thumb morphology, Thrombocytopenia OMIM:614082
Cooper-Jabs Syndrome
Missing ribs, Proximal placement of thumb, Reduced bone mineral density, Abnormal rib morphology,... ORPHA:1488
3M Syndrome
Short thorax, Delayed skeletal maturation, Hypoplastic pelvis, Increased vertebral height, Rocker... ORPHA:2616
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253010
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Vertebral fusion, Hemivertebrae, Vertebral wedging, Bifid r... OMIM:109400
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:607155
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... ORPHA:93352
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Sh... ORPHA:1120
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Genu varum, Irregular chondrocostal junctions, Metaphyseal dysplasia, Metaphyseal irregularity, S... OMIM:250420
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Missing ribs, Vertebral hypoplasia, Supernu... OMIM:206900
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short ribs, Abnormality of the metap... ORPHA:2021
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Toe syndactyly, Pectus carinatum, Abnormalit... ORPHA:3082
Frontometaphyseal Dysplasia 2
Pectus excavatum, Hip contracture, Short metatarsal, Dislocated radial head, Congenital hip dislo... OMIM:617137
Cole-Carpenter Syndrome
Bowing of the long bones, Abnormal form of the vertebral bodies, Wormian bones, Abnormality of th... ORPHA:2050
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperactivity, Ataxia, Hyperglycinuria OMIM:239500
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Joint dislocation, Wormian bones, Abn... ORPHA:2097
Caudal Regression Sequence
Abnormal vertebral segmentation and fusion, Missing ribs, Abnormal iliac wing morphology, Aplasia... ORPHA:3027
Achondrogenesis Type 1B
Short thorax, Short foot, Narrow chest, Abnormal rib morphology, Short neck, Umbilical hernia, Ab... ORPHA:93298
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Short greater sciatic notch, Metaphyseal dysplasia, Flared femoral metaphys... OMIM:184253
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Apert Syndrome
Toe syndactyly, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia of the thumb, Finger syndacty... ORPHA:87
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Vertebral fusion, Hemivertebrae, 11 pairs of ribs, Narrow chest, Rib fusion, Short neck, Scoliosis ORPHA:94095
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Multiple prenatal fractures, Short ribs, Short diaphyses, P... OMIM:215140
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Thin ribs, Wormian bones, Multiple prenatal fractures, Kyphosis, Os... OMIM:610915
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... OMIM:615633
Apert Syndrome
Cutaneous finger syndactyly, Cervical C5/C6 vertebrae fusion, Synostosis of carpal bones, Preaxia... OMIM:101200
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Dysosteosclerosis
Increased intervertebral space, Short ribs, Progressive bowing of long bones, Abnormal metaphysea... OMIM:224300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Wo... ORPHA:85184
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephropathy, Thrombocytopeni... OMIM:254900
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Nephritis, Nonprogressive cerebellar ataxia ORPHA:3327
Mucopolysaccharidosis, Type Vi
Anterior wedging of L1, Hypoplastic iliac wing, Metaphyseal widening, Flared iliac wing, Hypoplas... OMIM:253200
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, Hip contracture, Kyphosco... ORPHA:1145
Mosaic Trisomy 14
Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Renal tubular dysfunction, Neutropenia, Anemia, Hyperammonemia, Thrombocytopenia, Renal... ORPHA:289916
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae OMIM:619122
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Erlenmeyer flask deformity of the femur... OMIM:610539
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Short neck, Short foot, Narrow chest, Short palm, Recurrent... ORPHA:93299
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal rib morp... ORPHA:3035
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Forsythe-Wakeling Syndrome
Thrombocytopenia, Nephrotic syndrome OMIM:613606
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae OMIM:252900
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... ORPHA:3109
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Short middle phalanx of the 4th finger, Overlapping fingers, Congenital thro... OMIM:616738
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... ORPHA:3258
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Thin ribs, Arachnodactyly, Fused cervical vertebrae, Cleft vertebral arch, Contra... ORPHA:83617
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Fibular aplasia, Short hallux, Myelomeningocele, Abnormal vertebral segmentati... ORPHA:90652
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Broad toe, Hypoplastic sacrum, Delayed skeletal matura... OMIM:268310
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, ... ORPHA:1318
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Radial club hand, Abnormal vertebral morphology, Stillbirth,... OMIM:276950
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Dystonia, Anemia, Thrombocytopenia OMIM:619302
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Craniofacial hyperostosis, Abnormal rib morphology, Hyperlordosis, Limitation o... ORPHA:3068
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Osteopenia, Narrow iliac win... OMIM:616294
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Anemia, Hyperammonemia, Ataxia, Thrombocytopenia, Renal insufficie... ORPHA:27
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormality of the metaphysis, Genu valgum, Ovoid vertebral bodies, Kyphosi... ORPHA:583
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... OMIM:613101
Opsismodysplasia
Metaphyseal cupping, Anterior rib cupping, Posterior rib cupping, Short foot, Severe platyspondyl... OMIM:258480
Amed Syndrome, Digenic
Leukopenia, Anemia, Long thumb, Acute myeloid leukemia, Thrombocytopenia, Attention deficit hyper... OMIM:619151
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Clinodactyly OMIM:300928
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Three M Syndrome 2
Thin ribs, Pectus carinatum, Short thorax, Prominent calcaneus, Short 5th finger, Slender long bo... OMIM:612921
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Broad hallux phalanx, Coxa valga, Osteoporosis, Platyspondyly, Cuboid-shaped verteb... ORPHA:1517
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... ORPHA:54057
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... OMIM:203500
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Broad long bones, Coronal cleft vertebrae, Platyspondyly, Short ribs, Flare... ORPHA:2347
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619301
Osteogenesis Imperfecta, Type X
Thin ribs, Bowing of the long bones, Generalized joint laxity, Platyspondyly, Genu valgum, Osteop... OMIM:613848
Gm1-Gangliosidosis, Type I
Thickened ribs, Death in infancy, Beaking of vertebral bodies, Kyphosis, Hypoplastic vertebral bo... OMIM:230500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Neutropenia, Anemia, Splenomegaly, Hyperammonemia, Thrombocytopenia, Renal insufficienc... ORPHA:79312
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Amegakaryocytic thrombocytopenia, Hip dislocation, Shallow acetabula... OMIM:605432
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity ORPHA:85288
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Limited elbow extension, Short lo... OMIM:300106
Transcobalamin Deficiency
Neutropenia, Methylmalonic aciduria, Acute kidney injury, Lymphopenia, Pancytopenia, Thrombocytop... ORPHA:859
Holzgreve Syndrome
Abnormality of the ulna, Abnormal rib morphology, Hand polydactyly, Joint stiffness, Abnormally o... ORPHA:2167
Glycine Encephalopathy
Hyperactivity, Hyperglycinuria, Hyperglycinemia, Lethargy OMIM:605899
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Hemivertebrae, Posterior rib fusion, Abnormal rib cage morphology, Preaxial han... OMIM:608406
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Generalized bone d... ORPHA:73230
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Lipoatrophy ORPHA:141184
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia OMIM:615924
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... OMIM:252600
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Pectus excavatum, Death in infancy, Bowing of the legs, Multipl... OMIM:610682
Sillence Syndrome
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... ORPHA:3168
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Bone pain, Bowing of the legs, Generalized ost... ORPHA:89936
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Rudimentary fibula, Thin ribs, Hemivertebrae, Pectus carinatum, Hypoplastic ... ORPHA:958
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Hydrou... OMIM:598500
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Abnormal scapula morphology, Long fibula, Platyspondyly, Short metacarpal,... ORPHA:93317
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae OMIM:252920
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... ORPHA:79345
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Abnormal renal physiology, Anemia, Hyperbilirubinemia,... ORPHA:158057
Familial Osteodysplasia, Anderson Type
Bifid femur, Increased susceptibility to fractures, Abnormal form of the vertebral bodies, Missin... ORPHA:2769
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612926
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Short foot, Hip dislocation, Small hand OMIM:300434
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Homocystinuria,... OMIM:614857
Koolen-De Vries Syndrome
Pectus excavatum, Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Vertebral segmenta... ORPHA:96169
Craniometadiaphyseal Dysplasia
Genu varum, Broad long bones, Cubitus valgus, Wormian bones, Osteopenia, Genu valgum, Flared meta... OMIM:269300
Thyrocerebroretinal Syndrome
Ataxia, Nephritis, Thrombocytopenia OMIM:274240
Pyknoachondrogenesis
Poorly ossified vertebrae, Horizontal ribs, Short iliac bones, Enlarged thorax, Aplastic pubic bo... ORPHA:3003
Isovaleric Acidemia
Leukopenia, Hyperglycinuria, Pancytopenia, Thrombocytopenia, Lethargy OMIM:243500
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Proteinuria, Thrombocytopenia, Aminoacid... OMIM:603585
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia, Adducted thumb OMIM:601815
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Adducted thumb, Decreased fibular diameter, Multiple rib fractures, Platyspo... OMIM:616897
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Cleidocranial Dysplasia
Abnormality of pelvic girdle bone morphology, Hypoplastic scapulae, Abnormal sacrum morphology, O... ORPHA:1452
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Kyphoscoliosis, Dense calvaria, Joint stiffness OMIM:252930
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Asymmetry ... ORPHA:2911
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Neutropenia, Hyp... OMIM:169400
Thrombocytopenia, Paris-Trousseau Type
Radial deviation of finger, Thrombocytopenia, Clinodactyly OMIM:188025
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Thin ribs, Delayed closure of the anterior fontanelle, Increased susceptibility to fractures, Asy... OMIM:604922
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morpho... ORPHA:1834
Kniest-Like Dysplasia, Lethal
Dumbbell-shaped long bone, Coronal cleft vertebrae, Metaphyseal irregularity, Platyspondyly, Shor... OMIM:245190
Hyperphosphatasia With Mental Retardation Syndrome 6
2-3 toe syndactyly, Hip contracture, Elevated circulating creatine kinase concentration, Shorteni... OMIM:616809
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Prune Belly Syndrome
Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... ORPHA:85167
Kyphomelic Dysplasia
Flat acetabular roof, Thoracic hypoplasia, Anterior rib cupping, Tibial bowing, Lateral clavicle ... OMIM:211350
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Leukopenia, Stage 5... OMIM:251000
Chromosome 3Q29 Deletion Syndrome
Tapered finger, Long fingers, Hyperactivity, Clinodactyly of the 5th finger, Gait ataxia OMIM:609425
Holt-Oram Syndrome
Pectus excavatum, Short clavicles, Triphalangeal thumb, Abnormal vertebral morphology, Phocomelia... OMIM:142900
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Fibular Hemimelia
Abnormal lower limb bone morphology, Hypoplastic acetabulae, Finger syndactyly, Hip subluxation, ... ORPHA:93323
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Clinodactyly, Brachydactyly OMIM:618048
Folate Malabsorption, Hereditary
Athetosis, Neutropenia, Leukopenia, Ataxia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Short thorax, Limited elbow extensi... ORPHA:175
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Sclerotic scapulae, Deviatio... OMIM:269500
Bresek Syndrome
Postaxial hand polydactyly, Neonatal death, Scoliosis, Hemivertebrae ORPHA:85284
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Iliac crest ser... OMIM:250220
Cerebrofaciothoracic Dysplasia
Bifid ribs, Hemivertebrae, Sprengel anomaly, Narrow chest, Rib fusion, Short neck, Vertebral segm... ORPHA:1394
Faciodigitogenital Syndrome, Autosomal Recessive
Metatarsus adductus, Pectus excavatum, Vertebral fusion, Hyperextensible hand joints, Down-slopin... OMIM:227330
Cartilage-Hair Hypoplasia
Flaring of lower rib cage, Femoral bowing, Metaphyseal dysplasia, Metaphyseal cupping, Metaphysea... OMIM:250250
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Aicardi-Goutieres Syndrome 4
Dystonia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Thrombocytopenia OMIM:613839
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Micropenis OMIM:615597
Morm Syndrome
Hyperactivity, Micropenis ORPHA:75858
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... OMIM:613011
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of epiphysis morphology, Brachydactyly, Abnormal rib morphology, Delayed skeletal mat... ORPHA:2643
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Epiphyseal dysplasia, Pathologic fracture, Cupped ribs, 11 pairs of ribs, Hip subl... OMIM:271640
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Aicardi-Goutieres Syndrome 7
Dystonia, Thrombocytopenia, Nephrotic syndrome, Splenomegaly OMIM:615846
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Thickened ribs, Flexion contracture, Joint stiffness, Short neck OMIM:252940
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Increased urinary disaccharide excretion OMIM:248510
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... OMIM:601559
Mosaic Trisomy 8
Patellar aplasia, Narrow pelvis bone, Arthrogryposis multiplex congenita, Clinodactyly of the 5th... ORPHA:96061
Methylmalonic Aciduria, Cblb Type
Ketonuria, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Anemia, Hyperglycinemia, ... OMIM:251110
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Missing ribs, Small hand, Hip dysplasia, Supernumerary ribs, Blo... ORPHA:50
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Preeclampsia
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Throm... ORPHA:275555
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Rickets, Fibrous dysplasia of the bones, Abnormal bone structure, Patchy... ORPHA:249
Sengers Syndrome
Thrombocytopenia, 3-Methylglutaconic aciduria OMIM:212350
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... ORPHA:959
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly