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Gene: Nacc1 MGI:1914080

Gene Summary

Name:

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing

Synonyms:

4930511N13Rik, 2010001H03Rik, Btbd14b, Nac1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hydrometra	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	0.00
decreased bone mineral content	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	5.66×10^-05
abnormal retina morphology	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	1.62×10^-19
abnormal auditory brainstem response	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	5.36×10^-05
absent vibrissae	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	1.35×10^-15
short tibia	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	1.30×10^-05
polycystic kidney	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	0.00
decreased total retina thickness	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	2.24×10^-11
impaired glucose tolerance	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	7.82×10^-06
decreased grip strength	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	1.98×10^-05
increased mean corpuscular volume	Nacc1^{em1(IMPC)Hmgu}	HOM	Early adult	5.88×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Human diseases caused by Nacc1 mutations

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

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

Human diseases associated with Nacc1 (2 diseases)
Human diseases predicted to be associated with Nacc1 (779 diseases)

The table below shows human diseases associated to Nacc1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract		Flexion contracture, Scoliosis	ORPHA:500545
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination		Joint contracture, Scoliosis	OMIM:617393

The table below shows human diseases predicted to be associated to Nacc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Bardet-Biedl Syndrome 10	Renal insufficiency, Retinal dystrophy, Renal cyst, Polydactyly, Hypogonadism, Rod-cone dystrophy	OMIM:615987
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,...	ORPHA:3268
Diaphanospondylodysostosis	Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b...	ORPHA:66637
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Nephronophthisis 14	Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, External genital hypoplasia, Cryptorchidism, Renal cyst, P...	OMIM:615982
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Long peni...	ORPHA:1988
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ...	ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Micrognathia, Persistence of hemo...	OMIM:300946
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism, Abnormality of the cer...	OMIM:307500
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect	OMIM:618845
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Kyphomelic Dysplasia	Anterior rib cupping, Joint stiffness, Missing ribs, Lateral clavicle hook, Limitation of joint m...	ORPHA:1801
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
RCAD (renal cysts and diabetes)	Diabetes mellitus, Multiple renal cysts	DECIPHER:47
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Bardet-Biedl Syndrome 6	Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, R...	OMIM:605231
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t...	ORPHA:2790
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Meckel Syndrome 13	Retinopathy, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis	ORPHA:93304
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly	OMIM:214300
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Abnormal thorax morphology, Azoospermia, Infertility, Scoliosis, Thorac...	ORPHA:1445
Heart Defects-Limb Shortening Syndrome	Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:1354
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs...	OMIM:613686
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus...	OMIM:259440
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends	ORPHA:168555
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Decrea...	ORPHA:2234
Kuskokwim Syndrome	Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o...	ORPHA:1149
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho...	OMIM:178110
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Osteogenesis Imperfecta, Type Vi	Joint laxity, Vertebral compression fracture, Increased susceptibility to fractures, Biconcave ve...	OMIM:613982
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate vagina, Uterus didelph...	ORPHA:2237
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli...	OMIM:614091
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short digit, Ambiguous genitalia, Metaphyseal spurs, Postaxial polydactyl...	OMIM:613091
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Low-set ears, Ambiguous genitalia,...	OMIM:613885
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But...	ORPHA:313892
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Acropectorovertebral Dysplasia	Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu...	OMIM:102510
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, EEG abnormality, Increased...	OMIM:617021
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e...	OMIM:601382
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Abnormal vertebral morphology, Short neck	ORPHA:2015
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes...	OMIM:601344
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Frontotemporal hypertrichosi...	OMIM:263210
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join...	OMIM:113000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib...	ORPHA:2522
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:1836
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Abnorm...	ORPHA:96183
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma...	ORPHA:2760
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet...	ORPHA:2332
Spondylometaphyseal Dysplasia, Type A4	Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c...	OMIM:609052
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Retinal detachment, Short femur, Rhizomelia, Hypospadias, Sandal gap, Abnormal pin...	OMIM:607143
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity	ORPHA:73229
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck	OMIM:244600
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Macrocytic anemia, Pancytopenia, Syndactyly, Hemolytic-uremic syndrome, Increased...	ORPHA:2169
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Acrorenal-Mandibular Syndrome	Micrognathia, Aplasia of the bladder, Hypoplasia of the ulna, Split hand, Split foot, Bicornuate ...	OMIM:200980
Fibrodysplasia Ossificans Progressiva	Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o...	ORPHA:337
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc...	OMIM:612561
Gorlin Syndrome	Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Vertebral wedging...	ORPHA:377
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin...	OMIM:600501
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Peroxisome Biogenesis Disorder 2A (Zellweger)	Micrognathia, Metatarsus adductus, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy,...	OMIM:214110
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Peroxisome Biogenesis Disorder 3A (Zellweger)	Low-set ears, Epiphyseal stippling, Polycystic kidney dysplasia	OMIM:614859
Metatropic Dysplasia	Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy...	OMIM:156530
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Diamond-Blackfan Anemia 7	Macrocytic anemia, Short thumb, Horseshoe kidney, Increased mean corpuscular volume, Atresia of t...	OMIM:612562
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Aganglionic mega...	OMIM:236700
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu v...	ORPHA:3320
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte...	OMIM:618395
Becker Nevus Syndrome	Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis	OMIM:604919
Branchiootorenal Syndrome 1	Renal malrotation, Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Unilateral...	OMIM:113650
Trisomy 17P	Hypoplasia of penis, Urethral valve, Talipes, Micrognathia, Tapered finger, Urethral stenosis, Ge...	ORPHA:261290
Greenberg Dysplasia	Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica...	ORPHA:1426
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Ta...	OMIM:201170
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Highly arched eyebrow, Cryptor...	ORPHA:261250
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Precocious puberty, Sensorineural heari...	ORPHA:356961
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a...	ORPHA:1215
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:606612
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ...	ORPHA:93315
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax...	OMIM:617866
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Abnormal external genitalia, Micrognathia, Sensorineur...	ORPHA:314588
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2916
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit...	OMIM:271650
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, Tripha...	ORPHA:124
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology...	ORPHA:93351
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet...	OMIM:616860
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility	OMIM:619122
Joubert Syndrome 20	Postaxial polydactyly, Retinopathy, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidism, Joint hyp...	ORPHA:915
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali...	ORPHA:1486
Poland Syndrome	Sprengel anomaly, Short ribs, Rib fusion, Hemivertebrae	OMIM:173800
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Renal cyst, Hypospadias, Cryptorchidism, Hepatosplenomegaly, Epiphyseal stippling, ...	OMIM:614866
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Arima Syndrome	Proteinuria, Polyuria, Retinal dystrophy, Postaxial hand polydactyly, Optic atrophy, Stage 5 chro...	OMIM:243910
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Renal insufficiency, Nonketotic hypoglycemia, Tapered toe, Poster...	OMIM:608836
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Trident acetabulum, Acetabular spurs, Short ribs, Narrow chest, Horizontal...	OMIM:617405
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Micrognathia, Micropenis, Cryptorchidism, Humeroradia...	OMIM:134780
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra...	OMIM:619260
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Hip dislocation, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys...	ORPHA:811
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Verheij Syndrome	Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis	OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of...	ORPHA:628
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Joubert Syndrome 16	Retinal dystrophy, Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Mosaic Trisomy 14	Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal rib morphology, Narrow chest	ORPHA:1703
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vert...	ORPHA:3027
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom...	OMIM:263200
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,...	ORPHA:2311
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne...	OMIM:619774
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus, Ambiguous genitalia	OMIM:614209
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D...	ORPHA:93267
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon...	OMIM:609616
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot...	OMIM:615989
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri...	ORPHA:168549
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Squared ili...	OMIM:616300
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilocytosis, Hypoc...	OMIM:615234
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cort...	OMIM:231680
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Cryptorchidism, Pectus exca...	OMIM:150250
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Sparse hair, Short tibia, ...	OMIM:601559
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:110
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused ...	ORPHA:1724
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck...	OMIM:272460
Diamond-Blackfan Anemia 1	11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab...	OMIM:105650
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Micrognathia, Sparse ey...	OMIM:250410
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi...	OMIM:613390
Frontometaphyseal Dysplasia 1	Scapular winging, Dislocated radial head, Limited elbow movement, Interphalangeal joint contractu...	OMIM:305620
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis, Osteoarthritis...	OMIM:618000
Joubert Syndrome 39	Postaxial polydactyly, Retinal dystrophy, Joint contracture of the 5th finger, Polycystic kidney ...	OMIM:619562
Ulbright-Hodes Syndrome	Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma...	ORPHA:3404
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Thoracic kyphosis, Scoliosis	ORPHA:530983
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	ORPHA:1145
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi...	ORPHA:64755
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
White Forelock With Malformations	Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S...	ORPHA:2475
Fibrochondrogenesis 2	Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia	OMIM:614524
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Distal Deletion 12Q	Ectopic kidney, Micrognathia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinoda...	ORPHA:96149
15q26 overgrowth syndrome	Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Micrognathia, Tapered finger...	DECIPHER:81
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney disease, Thickened ...	OMIM:146255
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c...	OMIM:612852
Juberg-Hayward Syndrome	Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ...	ORPHA:2319
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Long clavicles, Elbow dislocation, Lateral clavicle hook, Anterior vertebral fusion, Shoulder dis...	OMIM:171480
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ...	OMIM:268305
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Proximal renal tubular acidosis,...	OMIM:181180
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia	OMIM:277410
Mucopolysaccharidosis Type 4	Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax...	ORPHA:582
Hajdu-Cheney Syndrome	Thick eyebrow, Hypospadias, Short nail, Micrognathia, Absent frontal sinuses, Cryptorchidism, Syn...	OMIM:102500
Joubert Syndrome 7	Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney dise...	OMIM:611560
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join...	ORPHA:2759
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Anemia, Leukopenia, Premature graying of hair, Increased mean corpuscu...	OMIM:127550
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o...	OMIM:109400
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Hori...	OMIM:615633
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Preaxial polydactyly, Retinal coloboma, Sho...	OMIM:616546
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Cryptorchidism, Sclerosis of skull base...	OMIM:130720
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo...	OMIM:617952
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge...	ORPHA:2180
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, B...	OMIM:617523
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
3M Syndrome	Scapular winging, Congenital hip dislocation, Hyperlordosis, Short neck, Increased vertebral heig...	ORPHA:2616
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy...	OMIM:253000
Grant Syndrome	Joint dislocation, Abnormal rib morphology, Joint hyperflexibility, Narrow chest, Wormian bones, ...	ORPHA:2097
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Absent eyebrow, Alopecia, Micrognathia, Absent eyela...	ORPHA:166035
Microphthalmia, Syndromic 3	Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Rib fusion, Hemive...	OMIM:206900
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Renal cyst, Low-set ears, Gonadal dysgenesis, male	OMIM:231060
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace...	OMIM:608728
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T...	OMIM:166210
Peroxisome Biogenesis Disorder 6A (Zellweger)	Low-set ears, Epiphyseal stippling, Renal cyst	OMIM:614870
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati...	ORPHA:93346
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Koolen-De Vries Syndrome	Vertebral fusion, Pectus excavatum, Kyphosis, Cryptorchidism, Hip dislocation, Joint hyperflexibi...	ORPHA:96169
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Micrognathia, 2-3 toe syndactyly, Protruding ear, Large hands, Long ey...	OMIM:606232
Achondrogenesis Type 1B	Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest	ORPHA:93298
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca...	OMIM:616229
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bo...	OMIM:608940
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Atretic vas deferens, Hypospadias, Abnormality of the kidney, Re...	OMIM:137920
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Knee...	OMIM:210710
Atelosteogenesis, Type I	11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Cryptorchidism, Elbow dislo...	OMIM:108720
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti...	ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal hair morphology, Ab...	ORPHA:3130
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,...	ORPHA:2751
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis...	ORPHA:392
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Septate vagina, Preaxial polydact...	OMIM:617925
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon...	OMIM:619698
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar...	OMIM:177170
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric acid...	ORPHA:26791
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Meckel Syndrome, Type 1	External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, female, Ambiguous genit...	OMIM:249000
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Hearing impairment, Pancreatic cy...	OMIM:311200
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ...	OMIM:151210
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ...	ORPHA:2970
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared...	OMIM:602111
Chromosome 17Q12 Deletion Syndrome	Micrognathia, Renal cyst, Protruding ear, Short palm, Long toe, Multicystic kidney dysplasia, Hig...	OMIM:614527
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas...	OMIM:208500
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pectus carinatu...	OMIM:617796
Phaver Syndrome	Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral...	ORPHA:2876
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form...	ORPHA:2021
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo...	ORPHA:2050
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Conductive hearing impairment, Dislocated r...	ORPHA:2044
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,...	OMIM:617056
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Talipes cavus equinovar...	OMIM:601455
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility, Decreased c...	ORPHA:2772
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Kbg Syndrome	Vertebral fusion, Short neck, Cryptorchidism, Delayed skeletal maturation, Rib fusion, Vertebral ...	OMIM:148050
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Cooper-Jabs Syndrome	Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi...	ORPHA:1488
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Diabetes mellitus, Pancreatic cysts, Splenomegaly, Sensorineural hearing impairment, Renal cyst, ...	OMIM:610199
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria	OMIM:252900
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Radioulnar synostosis, Supernumerar...	OMIM:263750
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Prea...	OMIM:603671
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypogonadotropic hypogonadism, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mo...	ORPHA:3068
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Abnormality of the vertebral endplates, Hypoplasia of the o...	ORPHA:239
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver...	OMIM:619227
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short neck, Abnormal ...	OMIM:200600
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry...	OMIM:618161
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Optic disc pallor, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde...	OMIM:274000
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia, Protruding ear	ORPHA:3270
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az...	ORPHA:300298
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria	OMIM:611773
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Dyggve-Melchior-Clausen Disease	Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of...	OMIM:223800
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs	OMIM:300863
Melnick-Needles Syndrome	Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti...	ORPHA:2484
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Ta...	OMIM:614815
Omodysplasia 2	Short humerus, Hypospadias, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Overfolded he...	OMIM:164745
Trisomy 13	Abnormal retinal vascular morphology, Cryptorchidism, Postaxial hand polydactyly, Sensorineural h...	ORPHA:3378
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Craniosynostosis, Short...	OMIM:213980
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Asplenia, Splenomegaly, Pancreatic cysts, Ureteral atresia, Stage 5 chronic ...	OMIM:208540
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Protruding ear, Multiple renal cysts, Abn...	ORPHA:1166
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness	OMIM:252920
Trisomy X	Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl...	ORPHA:3375
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous...	OMIM:236500
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb...	OMIM:252930
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Cryptorchidism, Hyperextensible hand ...	OMIM:227330
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, External genital hypoplasia, Micrognathia, Tibial bowing, Hy...	ORPHA:96334
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Clitoral hypertrophy, Sparse scalp ...	ORPHA:85201
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Cryptorchidism, Kyphosis, Abnormal rib morphology, Pectus carinatum	ORPHA:3082
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Cryptorchid...	OMIM:610443
Sifrim-Hitz-Weiss Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Flat acetabular roof, Fused cervical vertebrae, Sh...	OMIM:617159
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla...	OMIM:616294
22Q11.2 Deletion Syndrome	Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment,...	ORPHA:567
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Macular degeneration, Nephronop...	OMIM:266920
Fibrochondrogenesis 1	Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thoracic hypoplasia, Short neck, Thin...	OMIM:228520
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Sparse hair, Accessory splee...	OMIM:268300
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur, Glandular hypospadias	OMIM:620306
Brachytelephalangic Chondrodysplasia Punctata	Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C...	ORPHA:79345
Ogden Syndrome	Congenital hip dislocation, Maternal diabetes, Micrognathia, Protruding ear, Iron deficiency anem...	OMIM:300855
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Renal hypoplasia/aplasia, Micrognathia, Abnormality of the spleen, Missi...	ORPHA:1834
Cornelia De Lange Syndrome 1	Micromelia, Ectopic kidney, Micrognathia, Proximal placement of thumb, Synophrys, Renal cyst, Ves...	OMIM:122470
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Hearing impairment, Sensorineu...	OMIM:220500
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Barrel-shaped chest, Recurrent fractures, Multiple prenatal fractures, ...	OMIM:610915
Vacterl Association With Hydrocephalus	Stillbirth, Abnormality of the vertebral column, Abnormal vertebral morphology	OMIM:276950
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Missing ...	OMIM:268310
Jeune Syndrome	Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula...	OMIM:224300
Satoyoshi Syndrome	Pes planus, Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of ...	OMIM:600705
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab...	ORPHA:90652
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs	OMIM:200610
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Alopecia, Rickets of the lower limbs, Delayed epiphy...	OMIM:600785
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T...	OMIM:613848
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Abnormal pinna morphology, Postaxial polydactyly, Posta...	OMIM:614175
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Arthrogryposis, Distal, Type 2A	Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Abnormal auditory evoked poten...	OMIM:193700
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Cryptorchidism, Limitation of joint mobility, Abnormal rib m...	ORPHA:96061
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs	ORPHA:583
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Simple ear, Chorioretinal lacunae, Retinal pigment epithelial mottling,...	OMIM:618733
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair...	ORPHA:84064
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga	OMIM:109120
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes...	OMIM:253010
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Posteriorly rotated ears, Small hand, Talipes equinovar...	OMIM:619980
Cenani-Lenz Syndrome	Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie...	ORPHA:3258
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta...	ORPHA:97362
Trisomy 10P	Thumb contracture, Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked ...	ORPHA:171929
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
3Q29 Microdeletion Syndrome	Pectus carinatum, Joint hyperflexibility, Pectus excavatum, Six lumbar vertebrae	ORPHA:65286
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Sparse eyebrow, ...	ORPHA:73246
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ...	ORPHA:805
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Foot joint contracture, Cr...	ORPHA:90321
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto...	OMIM:258315
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Renal agenesis, Frontal balding, Synophrys, Protruding ear, Hypoplasia of the uter...	ORPHA:247768
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:3035
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v...	ORPHA:50
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Cerebrofaciothoracic Dysplasia	Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Shashi-Pena Syndrome	Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion	OMIM:617190
Hypophosphatasia	Narrow chest, Abnormal rib morphology, Recurrent fractures, Craniosynostosis	ORPHA:436
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Hypersplenism, Splenomegal...	ORPHA:731
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness	ORPHA:2167
Waardenburg Syndrome, Type 1	Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae	OMIM:193500
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Greenberg Dysplasia	Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v...	OMIM:215140
Gm1-Gangliosidosis, Type I	Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B...	OMIM:230500
Renpenning Syndrome	Joint stiffness, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly, Decreased testicula...	ORPHA:3242
Renal And Mullerian Duct Hypoplasia	Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele...	OMIM:266810
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm...	ORPHA:107
Mosaic Trisomy 1	Renal cyst, Finger clinodactyly, Micropenis, Absent distal interphalangeal creases, Microretrogna...	ORPHA:1692
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, External genital hypoplasia, Sensorineural hearing...	ORPHA:79330
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Bifid ribs, Scolios...	OMIM:304050
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal cyst, Protruding ear, Chor...	ORPHA:2031
2P15P16.1 Microdeletion Syndrome	Protruding ear, Multicystic kidney dysplasia, Facial palsy, Tapered finger, Sparse eyebrow, EEG a...	ORPHA:261349
Coach Syndrome 1	Optic disc pallor, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts,...	OMIM:216360
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Abnormal pinna morphology, Micrognathia, Bifid uterus, Preaxial ha...	OMIM:236680
Mucolipidosis Iii Alpha/Beta	Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f...	OMIM:252600
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win...	OMIM:216400
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Pes planus, Transient neutropenia, Long foot, Bowing of the legs, Long hallux,...	OMIM:617107
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed ep...	OMIM:300554
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot po...	OMIM:146510
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Tibial bowing, Protruding ear, Long hallux, Multicystic kidney dysplasia, ...	ORPHA:500095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Cryptorchidism, Hemivertebrae, Abnormal vertebral morphology	ORPHA:77298
Microcephalic Primordial Dwarfism, Toriello Type	Delayed skeletal maturation, Abnormal rib morphology	ORPHA:2643
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorc...	ORPHA:99429
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Abnormal chorioretinal morphology, Micrognathia, Exter...	ORPHA:912
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Wormian bones, Broad ribs	ORPHA:85184
Cantú Syndrome	Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,...	ORPHA:1517
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Cousin Syndrome	Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior hairline, Am...	OMIM:260660
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Trisomy 20P	Micrognathia, Low anterior hairline, Protruding ear, Coarse hair, Low-set, posteriorly rotated ea...	ORPHA:261318
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:887
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc...	OMIM:250420
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platy...	OMIM:618019
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs, Micrognathia, Cryptorchidism, ...	ORPHA:3301
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral refl...	OMIM:107480
Estrogen Resistance	Impaired glucose tolerance, Hyperinsulinemia, Polycystic ovaries, Hypoplasia of the uterus, Gluco...	OMIM:615363
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C...	ORPHA:261265
Alagille Syndrome	Cryptorchidism, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of the verteb...	ORPHA:52
Seckel Syndrome 10	Microretrognathia, Retinal detachment, Diabetes mellitus, Impaired glucose tolerance, Elevated he...	OMIM:617253
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D...	ORPHA:93111
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Postaxial polydactyly, Micrognathia, Highly arched eyebrow, Trichiasis, Sen...	OMIM:618460
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Sparse scalp h...	ORPHA:1001
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Hypospadias, Abnormal finger flexion...	OMIM:210600
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita...	OMIM:276820
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Highly arched eyebrow, Postaxial hand polydactyly, Optic di...	OMIM:213300
Fanconi Anemia, Complementation Group I	Fused cervical vertebrae, Short neck	OMIM:609053
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphyseal stippling,...	OMIM:601539
Joubert Syndrome 2	Renal insufficiency, Retinal dystrophy, Abnormal foot morphology, Postaxial hand polydactyly, Opt...	OMIM:608091
Charcot-Marie-Tooth Disease Type 1F	Proximal lower limb amyotrophy, Absent brainstem auditory responses, Urinary incontinence, Optic ...	ORPHA:101085
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Poland Syndrome	Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Cryptorchidism, Hemiverteb...	ORPHA:2911
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Mic...	OMIM:618150
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Vertebral segmentation defect, Abnormal rib morphology	ORPHA:1120
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Myhre Syndrome	Vertebral fusion, Short neck, Joint stiffness, Cryptorchidism, Limitation of joint mobility, Enla...	OMIM:139210
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal fallopian tube morphology, Rocker bottom foot, Micromelia, Microgna...	ORPHA:99776
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts	OMIM:263630
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Myoectodermal Gonadal Dysgenesis Syndrome	Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Accessory spleen, Highly arched eye...	OMIM:618419
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral ...	OMIM:617914
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst	OMIM:611561
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Male ...	ORPHA:140
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Cleidocranial Dysplasia	Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Abnormal sacrum morphology, Sp...	ORPHA:1452
Campomelia, Cumming Type	Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:1318
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of...	ORPHA:261344
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Cockayne Syndrome B	Renal insufficiency, Dry hair, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked p...	OMIM:133540
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Autosomal Dominant Popliteal Pterygium Syndrome	Joint stiffness, Cryptorchidism, Abnormal rib morphology, Popliteal pterygium, Scoliosis	ORPHA:1300
Caroli Disease	Splenomegaly, Leukocytosis, Polycystic kidney dysplasia	ORPHA:53035
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum...	ORPHA:857
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Micrognathia, Sensorineural hearing impairment, Agonadism, Hydron...	OMIM:154230
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Multifocal ep...	OMIM:615398
Peutz-Jeghers Syndrome	Melanonychia, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multi...	ORPHA:2869
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Short neck, Accelerated sk...	ORPHA:373
Joubert Syndrome 14	Posteriorly rotated ears, Postaxial polydactyly, Morning glory anomaly, Highly arched eyebrow, Op...	OMIM:614424
Caroli Syndrome	Abnormality of the kidney, Hypersplenism, Leukocytosis, Leukopenia, Polycystic kidney dysplasia, ...	ORPHA:480520
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus...	OMIM:616258
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat glenoid fossa, P...	OMIM:224690
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Cerebrotendinous Xanthomatosis	Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul...	ORPHA:909
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D...	ORPHA:206443
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty...	ORPHA:2075
Antley-Bixler Syndrome	Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor...	ORPHA:83
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Posteriorly rotated ears, Tapered finger, Micrognathia, Sparse eyeb...	OMIM:618829
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Flexion contracture of finger, Optic disc pallor, Hypospadias, Unilateral ren...	ORPHA:464311
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl...	ORPHA:2538
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Supernumerary nippl...	OMIM:618454
X-Linked Hypophosphatemia	Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi...	ORPHA:89936
Short-Rib Thoracic Dysplasia 12	Ambiguous genitalia, Hypoplastic scapulae, Posteriorly rotated ears, Abnormal pinna morphology, B...	OMIM:269860
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Von Hippel-Lindau Syndrome	Pancreatic cysts, Sensorineural hearing impairment, Papillary cystadenoma of the epididymis, Rena...	OMIM:193300
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology, Craniosynostosis	ORPHA:2145
Duane Retraction Syndrome	Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ...	ORPHA:233
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Pyknoachondrogenesis	Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ...	ORPHA:3003
Occipital Horn Syndrome	Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Aplastic clavicle, Abnormal ...	ORPHA:198
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm...	ORPHA:93317
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag...	ORPHA:175
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo...	ORPHA:3240
Apert Syndrome	Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Delayed epip...	OMIM:101200
Meckel Syndrome, Type 6	Abnormal internal genitalia, Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Postaxial ...	OMIM:612284
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short neck, Pectus ex...	ORPHA:508498
Castleman Disease	Renal insufficiency, Anemia, Decreased mean corpuscular volume, Hematuria, Ureteral obstruction, ...	ORPHA:160
Schwartz-Jampel Syndrome	Short neck, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae, Increased...	ORPHA:800
Radio-Renal Syndrome	Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck	ORPHA:3015
Kyphomelic Dysplasia	Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac...	OMIM:211350
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infection associa...	ORPHA:445038
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Delaye...	OMIM:194190
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow...	ORPHA:95699
Robinow Syndrome	Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Cryptorchidism, Rib fusion, Hemivertebrae...	ORPHA:97360
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Mixed hearing impairment, Down-sloping shoulders, Tapered finger, Cupped ear, ...	OMIM:615560
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ...	ORPHA:892
Acute Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Occipital Horn Syndrome	Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, C...	OMIM:304150
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Cryptorchidism,...	OMIM:617137
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Cryptorchidism, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Broad ribs	ORPHA:2519
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta...	OMIM:270400
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ...	ORPHA:93473
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Oeis Complex	Duplicated collecting system, Absence of the sacrum, 11 pairs of ribs, Hydroureter, Renal agenesi...	OMIM:258040
Focal Dermal Hypoplasia	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Alopecia, Camptodactyly of finge...	ORPHA:2092
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul...	OMIM:610682
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra...	OMIM:157800
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Cryptorchidism, Abn...	ORPHA:2215
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia, Heari...	OMIM:614922
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Cryptorchidism, Protruding ear, Abnorm...	ORPHA:2115
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Toe syndactyly, Hypospadias, Arachnodactyly, Unilateral renal a...	ORPHA:464306
Chops Syndrome	Tracheomalacia, Cervical C2/C3 vertebral fusion, Cryptorchidism	OMIM:616368
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Tibial Hemimelia	Absent tibia	OMIM:275220
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short...	OMIM:609136
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Eisenmenger Syndrome	Renal insufficiency, Clubbing, Hypochromic microcytic anemia, Pedal edema, Iron deficiency anemia...	ORPHA:97214
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Highly arched eyebrow, ...	ORPHA:261494
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect	ORPHA:959
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Narrow pelvi...	OMIM:608022
Meckel Syndrome, Type 2	Bowing of the long bones, Polydactyly, Postaxial hand polydactyly, Renal cyst	OMIM:603194
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Posteriorly rotated ear...	OMIM:257300
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, A...	ORPHA:564
Cranioectodermal Dysplasia 1	Protruding ear, Tubulointerstitial nephritis, Sparse hair, Rhizomelia, Short toe, Short ribs, Low...	OMIM:218330
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Cupped ear, Overfolded helix, Microtia, Rectovaginal fistula, Vesicour...	OMIM:617466
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Micrognathia, Precocious puberty, Hypercalciuria, Renal cyst, Upper limb undergrowth, Nephrocalci...	ORPHA:369837
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Optic atrophy,...	ORPHA:991
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,...	ORPHA:99027
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis	OMIM:607323
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Proximal placement of thumb, Renal cyst, Prominent fingertip...	OMIM:229850
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Renal h...	OMIM:614083
Charge Syndrome	External genital hypoplasia, Micrognathia, Hand monodactyly, Micropenis, Hypoplasia of the ulna, ...	OMIM:214800
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolith...	ORPHA:18
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Multicystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly	OMIM:607361
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Pes cavus, Urinary incontinence	ORPHA:206448
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Asplenia, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged ki...	OMIM:615415
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Renal agenesis, Short femur, Mesoaxial hand poly...	OMIM:277170
Aspergillosis	Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis	ORPHA:1163
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Osteomalacia, Testicular neoplasm, Abnormal rib morphology, Bone pa...	ORPHA:249
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Renal cyst	OMIM:617100
Penile Agenesis	Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Maternal diabetes, Cryptorchidism,...	ORPHA:49
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Retinal detachment, Micrognathia...	ORPHA:1556
Joubert Syndrome 21	Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Renal cyst, Short r...	OMIM:615636
Schinzel-Giedion Syndrome	Micrognathia, Renal cyst, Tibial bowing, Micropenis, Myeloid leukemia, Streak ovary, Hypospadias,...	ORPHA:798
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Conductive hearing impairment, Clinod...	ORPHA:1606
Congenital Disorder Of Glycosylation, Type Ia	Proteinuria, Hypergonadotropic hypogonadism, Macrotia, Renal cyst, Nephrotic syndrome, Proximal t...	OMIM:212065
Monosomy 9Q22.3	Accelerated skeletal maturation, Short neck, Kyphosis, Pectus excavatum, Abnormal rib morphology,...	ORPHA:77301
Apert Syndrome	Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion	ORPHA:87
Mend Syndrome	Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long fingers, C...	ORPHA:401973
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Low-set, ...	ORPHA:818
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst, Hyperinsulinemic hypoglycemia	OMIM:602579
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m...	ORPHA:1297
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Coarse hair, Sparse hair, Clinodactyly of the 5th finger, Finger synd...	ORPHA:2750
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t...	ORPHA:666
Orofaciodigital Syndrome Type 4	Micromelia, Micrognathia, Conductive hearing impairment, Aplasia/Hypoplasia of the tibia, Genu va...	ORPHA:2753
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Abnormal ...	ORPHA:457284
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, C...	ORPHA:83617
Transketolase Deficiency	Type I diabetes mellitus, Increased level of ribose in urine, Renal cyst, Hearing impairment	ORPHA:488618
Joubert Syndrome With Hepatic Defect	Renal insufficiency, Multicystic kidney dysplasia, Highly arched eyebrow, Splenomegaly, Postaxial...	ORPHA:1454
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Hypoplastic female external ge...	ORPHA:1507
Fryns Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol...	ORPHA:2059
Oculocerebrocutaneous Syndrome	Cryptorchidism, Congenital hip dislocation, Abnormal rib morphology, Missing ribs	ORPHA:1647
Cystic Echinococcosis	Eosinophilia, Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, S...	ORPHA:400
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Hypospadias, Optic nerve hypoplasia, Micrognathia, Sparse eyebrow, Cryptorchidism,...	ORPHA:495875
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter...	ORPHA:90793
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Short neck, Pectus excavatum, Cryptorchidism, Hip dislocation, Cervical C5/C6 vert...	OMIM:613458
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r...	ORPHA:263508
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Retinal hamartoma, Precocious puberty, Renal c...	OMIM:613254
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst	OMIM:611134
Pearson Syndrome	Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Diabetes mellitus, Splenomegaly,...	ORPHA:699
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Neonatal hypoglycemia, Renal salt wasting, Female external genitalia in ind...	ORPHA:168558
Acromelic Frontonasal Dysplasia	Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo...	ORPHA:1827
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Neonatal hypoglycemia, Renal salt wasting, Female external genitalia in ind...	ORPHA:289548
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Crypt...	OMIM:616975
Woodhouse-Sakati Syndrome	Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypop...	OMIM:241080
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Synophrys, Low anteri...	ORPHA:199
Myhre Syndrome	Joint stiffness, Cryptorchidism, Abnormal rib morphology, Platyspondyly, Hypogonadism	ORPHA:2588
Axial Osteomalacia	Renal cyst	OMIM:109130
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Protruding ear, Amin...	ORPHA:534
Tuberous Sclerosis 1	Precocious puberty, Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Preauricular ha...	OMIM:191100
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc...	OMIM:304120
Attenuated Familial Adenomatous Polyposis	Uterine leiomyoma, Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium	ORPHA:220460
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta	ORPHA:488434
D-Bifunctional Protein Deficiency	Micrognathia, Decreased nerve conduction velocity, Splenomegaly, Split hand, Renal cyst, Hammerto...	OMIM:261515
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Extramedullary hematopoiesis, Renal cyst	ORPHA:79303
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Pes planus, Posteriorly rotated ears, EEG with burst suppression, Renal cyst, Talipes equinovarus...	OMIM:617260
Genitopatellar Syndrome	Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Knee flexion contrac...	OMIM:606170
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kid...	ORPHA:322
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Posterior...	OMIM:300373
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Bowing of the long bones, Heari...	ORPHA:955
Proteus Syndrome	Abnormal finger morphology, Renal cyst, Chorioretinal coloboma, Clinodactyly of the 5th finger, G...	ORPHA:744
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst	ORPHA:480536
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Eosinophilia, Pancreatic cysts, Renal cyst, Pedal edema, Anemia,...	ORPHA:284
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Hearing impairment, Micrognathia, Cryptorchidism, 2-3 ...	ORPHA:1596
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614862
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Preaxial hand polydactyly,...	ORPHA:93271
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Broad hallux phalanx, Multicystic kidney dysplasia, Finger syn...	ORPHA:2308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Clitoral hypertrophy, Premature pubarche, Hypogonadotropic hypogonadism, Abno...	ORPHA:90794
Acrocephalopolydactylous Dysplasia	Abnormal pinna morphology, Micromelia, Postaxial hand polydactyly, Polysplenia, Low-set ears, Cys...	OMIM:200995
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Sensorineural hearing impairment, Hand polydactyly, C...	ORPHA:261197
Coffin-Siris Syndrome 1	Dry hair, Ectopic kidney, Prominent interphalangeal joints, Clinodactyly of the 5th finger, Promi...	OMIM:135900
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Posterior helix pit, Hypospadias, Cryptorch...	OMIM:312870
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Rhizomelia, Sparse eyelashes, Micrognathia, Simple ear, Splenome...	OMIM:613610
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact...	ORPHA:69085
Fraser Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:2052
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atrophy, Hematuria, Multiple ren...	ORPHA:538
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Synophrys, Conductive hearing impairment, Vesicoureteral reflux, Hyperglycemia, Low...	ORPHA:444077
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Renal cyst, Premature graying of hair, Conductive hear...	OMIM:113620
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Chori...	OMIM:118450
Pontocerebellar Hypoplasia Type 7	Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Micro...	ORPHA:284339
Beckwith-Wiedemann Syndrome	Ureteral duplication, Otosclerosis, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly, Cryptorchi...	ORPHA:116
Monosomy 9P	Short neck, Cryptorchidism, Limitation of joint mobility, Abnormal rib morphology, Abnormality of...	ORPHA:261112
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc...	ORPHA:99880
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Insulin-resistant diabetes mellitus, Hy...	ORPHA:3464
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Clitoral hypoplasia, Conductive hearing impairmen...	ORPHA:709
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi...	ORPHA:581
Histiocytoid Cardiomyopathy	Optic atrophy, Hypoglycemia, Renal cyst, Polycystic ovaries	ORPHA:137675
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae	OMIM:306955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Decreased testicular size, Multicystic kidney dysplasia, Optic nerve dysplasia,...	OMIM:615287
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc...	ORPHA:143
Kinsship Syndrome	Pes planus, Micrognathia, Coxa valga, Synophrys, Hip dislocation, Renal hypoplasia, Horseshoe kid...	OMIM:619297
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Conductive hearing impairment, ...	OMIM:201750
C Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Toe syndactyly, Talipes, Microme...	ORPHA:1308
Norrie Disease	Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid...	ORPHA:649
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Aplasia/...	ORPHA:1521
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Flexion contracture, Scoliosis	ORPHA:500545
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Ambiguous genitalia, Vaginal neo...	ORPHA:1052
Tetrasomy 9P	Renal dysplasia, Aplasia/Hypoplasia of the clavicles, Recurrent urinary tract infections, Hypopla...	ORPHA:3310
Structural Heart Defects And Renal Anomalies Syndrome	Low-set ears, Renal insufficiency, Overlapping toe, Renal cyst	OMIM:617478
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Cryptorchidism, ...	ORPHA:2554
Elsahy-Waters Syndrome	Bilateral cryptorchidism, Cervical C2/C3 vertebral fusion, Pectus excavatum	OMIM:211380
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Micrognathia, ...	OMIM:256520
Williams Syndrome	Hypoplasia of penis, Micrognathia, Abnormal tubulointerstitial morphology, Protruding ear, Nephro...	ORPHA:904
Vater/Vacterl Association	Abnormal rib morphology, Radioulnar synostosis, Abnormal sternum morphology, Scoliosis, Abnormal ...	OMIM:192350
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Joint contracture, Scoliosis	OMIM:617393
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity, Vesico...	ORPHA:261537
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity, Vesico...	ORPHA:2152
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Small scrotum, Micrognathia, Renal cyst,...	OMIM:601803
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Okamoto Syndrome	Urinary incontinence, Talipes, Bifid uterus, Splenomegaly, Extension of hair growth on temples to...	ORPHA:2729
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Craniofacial Microsomia 1	Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia	OMIM:164210
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica...	ORPHA:51608
Trisomy 18	Cryptorchidism, Delayed skeletal maturation, Abnormal rib morphology, Camptodactyly of finger	ORPHA:3380
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity, Vesico...	ORPHA:261552
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ...	OMIM:130050
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Micrognathia, Conductive hearing impairment, Atresia of the externa...	ORPHA:1393
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d...	ORPHA:667
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Multicystic kidney dysplasia, Alopecia, Renal agenesis, Hypospadias, Unilateral r...	OMIM:308205
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, E...	OMIM:618280
Charge Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal rib morphology, Hemivertebrae, Abnormalit...	ORPHA:138
Hereditary Acrokeratotic Poikiloderma	Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger	ORPHA:2907
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Kindler Epidermolysis Bullosa	Flexion contracture, Abnormal rib morphology, Camptodactyly of finger	ORPHA:2908
Pmm2-Cdg	Pes planus, Proteinuria, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Long fingers, ...	ORPHA:79318
Loeys-Dietz Syndrome	Pes planus, Arachnodactyly, Camptodactyly of finger, Micrognathia, Uterine rupture	ORPHA:60030
Vascular Ehlers-Danlos Syndrome	Alopecia, Congenital hip dislocation, Hypospadias, Abnormality of hair texture, Abnormal eyelash ...	ORPHA:286

Histopathology

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

There is no histopathology data for Nacc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nacc1.

No publications found that use IMPC mice or data for Nacc1.

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MGI Allele	Allele Type	Produced
Nacc1^{em1(IMPC)Hmgu}	Intra-exon deletion	Mice
Nacc1^{tm250148(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nacc1 MGI:1914080

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Nacc1 mutations

Histopathology

IMPC related publications

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