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Gene: Notum MGI:1924833

Gene Summary

Name:

notum palmitoleoyl-protein carboxylesterase

Synonyms:

5730593N15Rik

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
preweaning lethality, incomplete penetrance	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased exploration in new environment	Notum^em1(IMPC)Tcp	HET	Early adult	1.49×10^-08
small uterus	Notum^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal kidney morphology	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00
small ovary	Notum^em1(IMPC)Tcp	HET	Late adult	0.00
anophthalmia	Notum^em1(IMPC)Tcp	HOM	E18.5	0.00
abnormal brain morphology	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased grip strength	Notum^em1(IMPC)Tcp	HET	Late adult	4.86×10^-05
cataract	Notum^em1(IMPC)Tcp	HET	Late adult	2.36×10^-07
small spleen	Notum^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal uterus morphology	Notum^em1(IMPC)Tcp	HET	Early adult	0.00

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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.

Gross Pathology and Tissue Collection

11 Images

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Histopathology

Images

3 Images

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Immunophenotyping

Panel B FCS file(s)

7 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Notum 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 Notum (0 diseases)
Human diseases predicted to be associated with Notum (1227 diseases)

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

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

Disease	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Mounier-Kühn Syndrome	Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T...	ORPHA:3347
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Tracheal atresia	OMIM:601612
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Tracheal atresia	ORPHA:3346
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Atelectasi...	ORPHA:3348
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im...	ORPHA:71267
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ...	OMIM:610967
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow...	OMIM:301014
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Anonychia-Microcephaly Syndrome	Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteri...	ORPHA:166272
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica...	OMIM:259440
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones	ORPHA:53697
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Jung Syndrome	Tracheal stenosis, Recurrent respiratory infections	ORPHA:2321
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Isolated Osteopoikilosis	Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, Syndactyly,...	ORPHA:166119
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Tracheoesophageal fistula	ORPHA:93941
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Cranio...	OMIM:259700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe...	OMIM:618363
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal dental ename...	ORPHA:10
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl...	ORPHA:2790
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Moderate albuminuria, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of t...	OMIM:619269
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ...	ORPHA:79405
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Tracheal stenosis, Hypoplasia of penis	OMIM:601427
Hall-Riggs Syndrome	Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp...	OMIM:234250
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short 1st metacarpal, Joint hyperflexibility, Hip dysplasia, Short mid...	ORPHA:63442
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis	ORPHA:178377
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic...	OMIM:613848
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Thin upper lip vermilion, Abnormal cortical bone morphology, Unilateral re...	ORPHA:2512
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Cataract 29	Cataract	OMIM:115800
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Renal agenesis, Cleft palate, Upper limb phocomelia, Atypi...	ORPHA:294975
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Increased connective tissue, Carious teeth, Keratitis, Scarring alopecia of s...	OMIM:226670
Pendred Syndrome	Tracheal stenosis, Nephropathy	ORPHA:705
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ...	ORPHA:79406
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Osteoporosis	Osteoporosis	OMIM:166710
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal...	OMIM:112240
Keutel Syndrome	Recurrent respiratory infections, Pulmonary artery stenosis, Calcification of cartilage, Recurren...	ORPHA:85202
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Taurodontism	Taurodontia	OMIM:272700
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Unilateral renal agenesis, Micrognathia, Diastema, Patent ductus arter...	OMIM:609757
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Failure to thrive, Pancytopenia, Unilateral renal agenesis, Postaxial polydactyly, ...	OMIM:614576
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Osteoporosis, Obesity, Short metatarsal, Enamel hypo...	OMIM:612463
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Recurrent pneumonia, Stage 5 chronic kidney disea...	OMIM:614378
48,Xyyy Syndrome	Acne, Thick lower lip vermilion, Abnormal renal morphology, Irregularly spaced teeth, Radioulnar ...	ORPHA:99329
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal ...	ORPHA:96263
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract	OMIM:274205
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti...	OMIM:610968
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Schimke Immuno-Osseous Dysplasia	Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr...	ORPHA:1830
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Emanuel Syndrome	Broad jaw, Chronic oral candidiasis, Recurrent urinary tract infections, Congenital hip dislocati...	OMIM:609029
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ...	ORPHA:79411
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Velop...	OMIM:613680
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Anemia	ORPHA:79402
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut...	OMIM:203550
Burn-Mckeown Syndrome	Mandibular prognathia, Inguinal hernia, Unilateral renal agenesis, Cleft upper lip, Micrognathia,...	OMIM:608572
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor...	OMIM:616294
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hall...	OMIM:212780
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive	OMIM:226700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph...	OMIM:211900
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Toe syndactyly, ...	ORPHA:819
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Micrognathia, Postaxial ...	OMIM:618142
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Hurler-Scheie Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate...	OMIM:607015
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus...	ORPHA:2563
Majeed Syndrome	Flexion contracture, Glomerulopathy, Increased bone mineral density, Hepatomegaly, Acne, Congenit...	ORPHA:77297
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Infertility	OMIM:300719
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl...	OMIM:166200
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Osteoporosis, Hip dis...	OMIM:616507
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96264
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario...	OMIM:131300
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Small for gest...	OMIM:101800
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Tracheobronchomegaly	Death in infancy, Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis	OMIM:275300
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosin...	OMIM:147060
Hypomandibular Faciocranial Dysostosis	Tracheal stenosis, Death in infancy, Recurrent respiratory infections, Abnormal tracheobronchial ...	ORPHA:1790
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta, Atypical scarring of skin	OMIM:229200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Ck Syndrome	Dental crowding, Micrognathia, Abnormal digit morphology, High palate, Malar flattening, Abnormal...	OMIM:300831
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Recurre...	ORPHA:251004
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Dental crowdi...	ORPHA:96170
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil...	ORPHA:245
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious ...	OMIM:612714
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Camptodactyly of fi...	OMIM:619951
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Premature loss of t...	OMIM:174810
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Carious te...	OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Hemolytic-uremic syndrom...	OMIM:614727
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thromb...	OMIM:617475
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, ...	ORPHA:887
Hypogonadism-Cataract Syndrome	Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal...	OMIM:240950
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis	OMIM:620183
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Brach...	ORPHA:2643
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Omphalocele, Congenital hip dislocation, In...	OMIM:614450
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation, Tracheal s...	ORPHA:3301
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Braddock Syndrome	Preaxial hand polydactyly, Failure to thrive, Unilateral renal agenesis, Micrognathia	ORPHA:52047
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping toe, Unilateral renal agenesis, High, narrow palate, Renal ...	OMIM:618494
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Joint hypermobility, Unilateral renal agenesis, Cleft lip, Pierre-Robin...	OMIM:619504
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ...	OMIM:157980
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilater...	OMIM:614900
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, E...	OMIM:618205
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Micrognathia, Cleft upper lip, Ectopic kidney, Cleft p...	OMIM:601076
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, 2-3 toe syndactyly, High palate, Short philtrum, Talipes equinovarus, ...	ORPHA:3306
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Inguinal hernia, Hypospadias, Overlapping toe, Unilateral renal agenesi...	OMIM:616737
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly, Syndactyly	OMIM:613576
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enam...	ORPHA:1133
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border, Hepatitis	ORPHA:363523
Fraser Syndrome 3	Hypoplasia of penis, Abnormal lung lobation, Ureteral agenesis, Stillbirth, Tracheal atresia	OMIM:617667
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat...	OMIM:224300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N...	OMIM:615285
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Micrognathia, Umbilical hernia, Nephroblastoma, Enlar...	OMIM:618272
Mulibrey Nanism	Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Thickened co...	OMIM:253250
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Upper limb peromelia, Downturned corners of mou...	ORPHA:1299
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of t...	ORPHA:2484
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi...	OMIM:618761
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Obesity, Short metatarsal, ...	OMIM:103580
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Short toe, Tooth ag...	ORPHA:633
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor...	ORPHA:1077
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Mi...	ORPHA:628
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Re...	ORPHA:2863
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia, Shagree...	ORPHA:1816
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic...	ORPHA:79409
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal age...	ORPHA:2260
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngea...	OMIM:129400
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Acne, Camptodactyly of finger,...	ORPHA:137834
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of...	ORPHA:289176
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Cleft palate, Oligosacchariduria, Downt...	ORPHA:163649
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,...	ORPHA:3270
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Spastic Paraparesis-Deafness Syndrome	Cataract, Hypogonadism	ORPHA:2815
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthri...	ORPHA:375
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip d...	OMIM:616362
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, ...	OMIM:619718
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Cleft palate,...	ORPHA:79284
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra...	ORPHA:666
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atypical scarring of skin, A...	ORPHA:79410
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Anencephaly 2	Anophthalmia	OMIM:619452
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn...	ORPHA:85184
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs,...	OMIM:610682
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Ever...	OMIM:619980
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A...	OMIM:194072
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short humeru...	OMIM:239000
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage flui...	OMIM:608710
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, T...	OMIM:612350
Oculodentodigital Dysplasia	Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 f...	OMIM:164200
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Craniosynostosis, Premature loss of primary teeth, Carious teeth, B...	OMIM:241510
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Osteoporosis, Obesity, Short metatarsal, Low urinary...	OMIM:612462
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Short lo...	OMIM:618845
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Micropenis, Increased overbite	OMIM:618504
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period...	ORPHA:79259
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph...	ORPHA:73
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger	OMIM:601355
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Patent ductus arteriosus, ...	OMIM:617190
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Small for gestational age, Rocker bottom foot, Micrognathia, Carious t...	OMIM:214150
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis	OMIM:244200
Osteoglosphonic Dysplasia	Inguinal hernia, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, Tooth ...	ORPHA:2645
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
12Q14 Microdeletion Syndrome	Ectopic kidney, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Renal hypoplasia, Horse...	ORPHA:94063
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia...	OMIM:619752
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Renal hypoplasia, Micro...	OMIM:616541
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral densi...	OMIM:617052
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
Proteus Syndrome	Thin bony cortex, Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hype...	OMIM:176920
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Neonatal death, Long h...	OMIM:259775
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Urethral atresia, ...	ORPHA:1896
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Seckel Syndrome 5	Hypospadias, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypo...	OMIM:613823
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Trichomegaly	Cataract	OMIM:190330
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesit...	OMIM:300602
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Downturned corners of mouth, Craniosynostosis, Unilateral renal agenesis, Micrognathia	ORPHA:1064
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Arthritis, A...	ORPHA:37748
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Branchial cyst, Branchial fistula, Congenital hip dislocation...	OMIM:113650
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Tapered finger, Dental malocclusion, Alveo...	ORPHA:444072
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla...	OMIM:620099
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Joint hyperflexibility, Abnormal pelvic girdle...	ORPHA:2097
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Seckel Syndrome 1	Ivory epiphyses, Pancytopenia, Dental crowding, Selective tooth agenesis, Hypospadias, Micrognath...	OMIM:210600
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Abnormality of the dentition, Clinodactyly, Nephrocalcinosis, Oligodontia,...	ORPHA:557003
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Tracheal stenosis, Hypospadias, Tracheomalacia	OMIM:217980
Geleophysic Dysplasia 3	Tracheal stenosis, Pneumonia	OMIM:617809
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis...	ORPHA:221139
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Thin upper lip vermilion, Recurrent urinary tract infections, Exaggerated cupid's b...	OMIM:619293
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis...	ORPHA:77259
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size	ORPHA:1875
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the...	ORPHA:416
Dyskeratosis Congenita	Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Abnormality of the dentition, Hypo...	ORPHA:1775
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis, Decreased body weight, Clinodactyly ...	OMIM:617306
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion border, Short philt...	OMIM:272440
Spondyloepimetaphyseal Dysplasia, Shohat Type	Tracheal stenosis, Abnormal bronchus morphology	ORPHA:93352
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, P...	OMIM:619797
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ...	ORPHA:487796
Chondrodysplasia Punctata 2, X-Linked Dominant	Tracheal stenosis, Hydronephrosis, Tracheal calcification	OMIM:302960
Orofaciodigital Syndrome Type 5	Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac...	ORPHA:2919
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Abnormal bronchus morphology, Pulmonary artery stenosis, Trache...	ORPHA:79345
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism...	ORPHA:2658
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Keratitis, Scarring alopecia of scalp, Folliculitis, Conjunctivitis, Enamel hypopl...	OMIM:612843
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short philtrum, High palat...	ORPHA:96121
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Galactosemia Ii	Cataract, Prolonged neonatal jaundice	OMIM:230200
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Hamamy Syndrome	Osteopenia, Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Long to...	OMIM:611174
Hydrolethalus	Tracheal atresia	ORPHA:2189
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency anemi...	OMIM:212750
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Micropenis, High palate, Unilateral renal agenesis	OMIM:308750
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia,...	OMIM:618342
Mucopolysaccharidosis-Plus Syndrome	Metaphyseal widening, Flexion contracture, Leukopenia, Neutropenia, Nephritis, Hepatomegaly, Pate...	OMIM:617303
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Beemer-Ertbruggen Syndrome	Deep philtrum, Increased bone mineral density, Thrombocytopenia, Micrognathia	ORPHA:1237
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h...	ORPHA:94089
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Potocki-Shaffer Syndrome	Nephroblastoma, Micrognathia, Downturned corners of mouth, Short philtrum, Micropenis, Decreased ...	ORPHA:52022
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Desmosterolosis	Failure to thrive, Increased bone mineral density, Renal agenesis, Micromelia, Micrognathia, Rena...	ORPHA:35107
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Coxa valga, Carious teeth, Hypoplasia of teeth, Genu valgum, Hypophosphatemic ...	OMIM:613312
Cerebellofaciodental Syndrome	Tapered finger, Dental malocclusion, Shortening of all distal phalanges of the fingers, Genu valg...	OMIM:616202
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Microgn...	OMIM:259720
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Large h...	ORPHA:3220
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro...	OMIM:616354
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fifth metatars...	ORPHA:79444
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph...	OMIM:190350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Dental crowding, Hypospadias, Joint stiffness, Tracheobronchomalacia, Pierr...	OMIM:619184
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Foot oligodactyly...	OMIM:154400
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Scarring, Delayed eruption of primary teeth, Flexion contrac...	ORPHA:90322
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contract...	OMIM:604273
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia	ORPHA:517
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa...	OMIM:613684
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Laryngotracheal stenosis	OMIM:222600
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos...	ORPHA:2314
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert...	OMIM:619736
Meckel Syndrome, Type 8	Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyp...	OMIM:613885
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora...	ORPHA:952
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Tracheal stenosis, Recurrent respiratory infections	ORPHA:2637
Myoectodermal Gonadal Dysgenesis Syndrome	Short palm, Omphalocele, Accessory spleen, Small for gestational age, Unilateral renal agenesis, ...	OMIM:618419
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te...	OMIM:218400
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Post...	OMIM:216360
Endocrine-Cerebroosteodysplasia	Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Microphallus, Thick upper lip verm...	OMIM:612651
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab...	ORPHA:436
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta...	OMIM:213980
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Cleft pal...	ORPHA:2635
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi...	OMIM:601957
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Limitation of joint mobility, Ectopic ossification in ligament tissu...	ORPHA:337
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil...	ORPHA:1193
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Sandal gap, Micrognathia, Renal hypoplasia/aplasia, Splenomegal...	ORPHA:1046
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Camptodactyly...	ORPHA:468631
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short palm, Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostos...	ORPHA:171839
H Syndrome	Hallux valgus, Psoriasiform dermatitis, Lipodystrophy, Abnormality of the kidney, Recurrent fract...	ORPHA:168569
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertro...	OMIM:252500
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp...	ORPHA:1897
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Recurrent fractures, Unilateral renal agenesis, Metaphy...	OMIM:618188
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nar...	OMIM:226600
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Cleft palate, Cervical C2/C3 vertebral fusi...	OMIM:118100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Long philtrum, Purse...	ORPHA:800
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria, Abnormal renal tubule morph...	ORPHA:839
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp...	OMIM:618727
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D...	ORPHA:884
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Malar flatten...	OMIM:618874
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Neurofacioskeletal Syndrome With Or Without Renal Agenesis

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Gene: Notum MGI:1924833

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