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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
abnormal brain morphology	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00
anophthalmia	Notum^em1(IMPC)Tcp	HOM	E18.5	0.00
abnormal kidney morphology	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00
small spleen	Notum^em1(IMPC)Tcp	HET	Late adult	0.00
small uterus	Notum^em1(IMPC)Tcp	HET	Late adult	0.00
preweaning lethality, incomplete penetrance	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal cholesterol homeostasis	Notum^em1(IMPC)Tcp	HET	Early adult	7.03×10^-05
decreased grip strength	Notum^em1(IMPC)Tcp	HET	Late adult	4.85×10^-05
abnormal uterus morphology	Notum^em1(IMPC)Tcp	HET	Early adult	0.00
small ovary	Notum^em1(IMPC)Tcp	HET	Late 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.

Histopathology

Images

20 Images

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Eye Morphology

Images Ophthalmoscopy

157 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

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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Histopathology

Images

9 Images

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Eye Morphology

Images Slit Lamp

12 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Immunophenotyping

Panel A FCS file(s)

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Immunophenotyping

Panel B FCS file(s)

7 Images

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Gross Pathology and Tissue Collection

Images

12 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 (1172 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	Anophthalmia, Microphthalmia	ORPHA:85275
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Tracheobronchmeg...	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	Anophthalmia, Microphthalmia	OMIM:251600
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Tracheal atresia, Bilateral lung agenesis, Neonatal death	OMIM:601612
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Tracheal Agenesis	Tracheal atresia, Aplasia/Hypoplasia of the lungs	ORPHA:3346
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis	OMIM:125440
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Tracheal calcification, Atelectasis, Bronchitis, Calcification of...	ORPHA:3348
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Trichodentoosseous Syndrome	Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth	OMIM:190320
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density	ORPHA:1653
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Osteoporosis, Short ...	ORPHA:71267
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bon...	OMIM:619795
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Osteopenia, Abnormal pelvic girdle bone morphology, Anterior radial he...	OMIM:610967
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Osteopenia, Rhizomelia, Bowing of the arm, Joint hypermobility, Multip...	OMIM:301014
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del...	OMIM:613849
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth, Clinodactyly of the 5th finger	ORPHA:1094
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort...	ORPHA:210110
Cranioectodermal Dysplasia	Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abno...	ORPHA:1515
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Osteogenesis Imperfecta, Type Xiii	Enuresis nocturna, Dentinogenesis imperfecta, Long philtrum, Wide distal femoral metaphysis, Umbi...	OMIM:614856
Odontochondrodysplasia	Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed eruption of teeth, ...	ORPHA:166272
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific...	OMIM:259440
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
X-Linked Hypophosphatemia	Renal phosphate wasting, Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the lon...	ORPHA:89936
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Jung Syndrome	Tracheal stenosis, Recurrent respiratory infections	ORPHA:2321
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Flynn-Aird Syndrome	Carious teeth, Joint stiffness, Increased bone density with cystic changes, Osteoporosis, Increas...	OMIM:136300
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Tracheoesophageal fistula	ORPHA:93941
Isolated Osteopoikilosis	Limitation of joint mobility, Abnormal pelvis bone ossification, Sclerosis of foot bone, Abnormal...	ORPHA:166119
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossifica...	OMIM:618363
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Short distal phalanx of finger, Carious teeth, Mandibular osteomyel...	ORPHA:53
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm...	ORPHA:10
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Short t...	OMIM:619269
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos...	ORPHA:2790
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytop...	OMIM:259700
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Tracheal stenosis, Hypoplasia of penis	OMIM:601427
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal metaphysis m...	ORPHA:2501
Keutel Syndrome	Calcification of cartilage, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Rec...	ORPHA:85202
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Slender long bone, Micrognathia, Bowing of limbs due to multiple fract...	OMIM:259420
Hall-Riggs Syndrome	Failure to thrive, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia,...	OMIM:234250
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Delayed eruption of teeth, Short 1st metacarpa...	ORPHA:63442
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Joint hyperm...	OMIM:613982
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Oste...	OMIM:259710
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul...	ORPHA:83451
Pendred Syndrome	Nephropathy, Tracheal stenosis	ORPHA:705
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Osteopenia, Recurrent pneumonia, Rhizomelia, Micromelia, Micrognathia,...	OMIM:613848
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg...	OMIM:112240
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Craniosynostosis, Increased bone mineral density	ORPHA:178377
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Unilateral renal agenesis, Abnormal cortical bone morphology, Vesicoure...	ORPHA:2512
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Keratitis, Urethral stricture, Punctate keratitis, Increased connective tissue, Sc...	OMIM:226670
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Congenital Absence Of Upper Arm And Forearm With Hand Present	Atypical scarring of skin, Renal agenesis, Abnormal hip bone morphology, Polydactyly, Upper limb ...	ORPHA:294975
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Osteoporosis	Osteoporosis	OMIM:166710
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Oral mucosal blisters, Enamel hypoplasia, Gastrointestinal inflamm...	ORPHA:79405
Taurodontism	Taurodontia	OMIM:272700
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Recurrent pneumonia, Broad distal phalanx of finger, Broad phalan...	OMIM:614378
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Obesity, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatar...	OMIM:612463
48,Xyyy Syndrome	Long philtrum, Thick lower lip vermilion, Dislocated radial head, Abnormal renal morphology, Radi...	ORPHA:99329
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Retrognathi...	OMIM:614576
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia	OMIM:226650
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Increased susceptibility to fractures, Joint hypermobility...	OMIM:610968
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
48,Xxxy Syndrome	Hip dislocation, Carious teeth, Chronic otitis media, Delayed eruption of teeth, Abnormal epiphys...	ORPHA:96263
Pfeiffer-Palm-Teller Syndrome	Joint stiffness, Enamel hypoplasia	ORPHA:2871
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Small for gestational age, Failure to thrive, Diastema, Micrognathia, ...	OMIM:609757
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Neutropen...	ORPHA:1830
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis, Death in infancy, Diverticulosis of trachea	OMIM:275300
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Increased su...	OMIM:166220
Intermediate Generalized Junctional Epidermolysis Bullosa	Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp, Enamel hypoplasia, Anemia	ORPHA:79402
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr...	OMIM:616294
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Hurler-Scheie Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Heparan sulfate excretion in urine, Tr...	OMIM:607015
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Hip dislocation, Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndact...	OMIM:203550
Emanuel Syndrome	Broad jaw, Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Dental crowdi...	OMIM:609029
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Limitation of joint mobility, Synostosis of carpal bones, Short t...	ORPHA:90650
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Inguinal...	OMIM:610915
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Failure to thrive, Atrophic scars, Enamel hypoplasia, Syndactyly	OMIM:226700
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Renal agenesis, Broad hallux, Micrognathia, Malar flattening, Hypodontia, Radio...	OMIM:212780
Majeed Syndrome	Inflammatory abnormality of the skin, Synovitis, Pustule, Cachexia, Weight loss, Hepatomegaly, Os...	ORPHA:77297
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Cleft upper lip, Micrognathia, Narrow m...	OMIM:608572
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recu...	OMIM:613680
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Abnormality of the dentition, Carious teeth, Dental malocclusion, Velo...	ORPHA:363444
Smith-Magenis Syndrome	Toe syndactyly, Cleft upper lip, Failure to thrive in infancy, Abnormality of the ureter, Obesity...	ORPHA:819
Hypomandibular Faciocranial Dysostosis	Abnormal tracheobronchial morphology, Recurrent respiratory infections, Tracheal stenosis, Death ...	ORPHA:1790
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Lymphopenia, Pancytopenia, Micrognathia, Open mouth, High palate, Syndact...	OMIM:620654
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Retrognathia, Preaxial polydactyly, Crossed fused renal ectopia, Micro...	OMIM:618142
Pycnodysostosis	Small hand, Carious teeth, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, Delayed erup...	ORPHA:763
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joi...	OMIM:166200
Camurati-Engelmann Disease	Carious teeth, Slender build, Sclerosis of skull base, Genu valgum, Diaphyseal sclerosis, Reduced...	OMIM:131300
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta, Hip dislocation, Thin metacarpal cortices, Joint hypermobility, Bowed ...	OMIM:616507
49,Xxxxy Syndrome	Hip dislocation, Carious teeth, Chronic otitis media, Delayed eruption of teeth, Abnormal epiphys...	ORPHA:96264
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of te...	OMIM:101800
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Atypical scarring of skin, Congenital hip dislocation, Joint hypermobi...	OMIM:229200
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long toe, Long...	OMIM:619489
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis	OMIM:620183
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Gnathodiaphyseal Dysplasia	Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis	OMIM:166260
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Recurrent fractures, Proteinuria, Episodic hemolytic ...	ORPHA:251004
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma...	OMIM:300831
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Failure to thrive, Malar flattening, Joint hypermobility, Amelogenesis impe...	OMIM:614727
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Osteopenia, Carious teeth, Failure to thrive, Splenomegaly, Anemia of inadequa...	OMIM:612714
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Everted upper lip vermilion, Sandal gap, Camptodactyly of finger, Micr...	OMIM:619951
Congenital Syphilis	Pneumonia, Periostitis, Keratitis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepa...	ORPHA:499009
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasi...	ORPHA:245
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor...	ORPHA:1782
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis, Cortical sclerosis...	OMIM:122860
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, ...	ORPHA:1423
Familial Expansile Osteolysis	Hydroxyprolinuria, Pathologic fracture, Fragile teeth, Bowing of the long bones, Thin bony cortex...	OMIM:174810
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Delayed e...	OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Ricket...	OMIM:264700
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Tracheal stenosis, Congenital diaphragm...	ORPHA:887
Pycnodysostosis	Aplastic clavicle, Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of...	OMIM:265800
Emanuel Syndrome	Broad jaw, Unilateral renal agenesis, Renal hypoplasia, Tooth malposition, Bifid uvula, Delayed e...	ORPHA:96170
Ramon Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G...	ORPHA:3019
Tetraamelia-Multiple Malformations Syndrome	Tracheal stenosis, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Multicystic kidney dy...	ORPHA:3301
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt...	ORPHA:2325
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Fraser Syndrome 3	Abnormal lung lobation, Ureteral agenesis, Tracheal atresia, Stillbirth, Hypoplasia of penis	OMIM:617667
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Ename...	OMIM:618349
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Umbilical hernia, Inguinal hernia, Joint hypermobility, Taurodontia, Enamel ...	OMIM:618205
Mueller-Weiss Syndrome	Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A...	ORPHA:566943
Specific Granule Deficiency 2	Tooth malposition, Conical tooth, Osteopenia, Recurrent pneumonia, Failure to thrive, Sandal gap,...	OMIM:617475
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption ...	ORPHA:289176
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis, Cleft lip, Joint hypermobility, Thin upper lip vermilion, Smooth philt...	OMIM:619504
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Delayed eruption of teeth, Increased body weight, Omphalocele, Increa...	OMIM:614450
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachydactyly, Neu...	ORPHA:2643
Lowry-Maclean Syndrome	Craniosynostosis, Delayed eruption of teeth, Cleft palate	OMIM:600252
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperostosis, Decreased renal tubular phosphate excretion, Increased renal tubu...	OMIM:211900
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Hypoch...	ORPHA:289157
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Hepatitis, Thick vermilion border	ORPHA:363523
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Obesity...	OMIM:157980
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Long ...	OMIM:618494
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administration, Increased bone ...	ORPHA:94089
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Braddock Syndrome	Unilateral renal agenesis, Micrognathia, Failure to thrive, Preaxial hand polydactyly	ORPHA:52047
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Cardiomegaly, Enamel hypoplasia, Syndactyly	OMIM:613576
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Joint hypermobility, 2-3 toe syndactyly, Talipes equinovarus, Hernia, ...	ORPHA:3306
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol...	ORPHA:1133
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widel...	OMIM:616737
Diamond-Blackfan Anemia 11	Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Anemia of ina...	OMIM:614900
Chondrodysplasia, Blomstrand Type	Stillbirth, Micromelia, Flared metaphysis, Micrognathia, Malar flattening, Generalized osteoscler...	OMIM:215045
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short toe, Short finger, Low urinary cyclic AMP response to PTH admini...	OMIM:103580
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Renal agenesis, Cleft upper lip, Micrognathia, Ectopic kidney, Cleft p...	OMIM:601076
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Nephroblastoma, Absent frontal sinuses, Hypod...	OMIM:253250
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Large for gestational age, Micrognathia, Inguinal hernia, Nephroblastoma, Enlar...	OMIM:618272
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Camptodactyly of finger, Sh...	ORPHA:628
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of...	ORPHA:2484
Dental Ankylosis	Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a...	ORPHA:1077
Laron Syndrome	Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Brachydactyly, O...	ORPHA:633
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Tracheal stenosis, Localized pulmonary hemorrhage, Hemosiderin-laden...	OMIM:608710
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu...	OMIM:600002
Branchioskeletogenital Syndrome	Carious teeth, Hypoplasia of the maxilla, Downturned corners of mouth, Ureteral stenosis, Upper l...	ORPHA:1299
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias, Shagree...	ORPHA:1816
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase...	OMIM:618761
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Frank-Ter Haar Syndrome	Acne, Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia...	ORPHA:137834
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis...	ORPHA:536467
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthri...	ORPHA:375
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Oligosacchariduria, Downturned corners of mouth, Long ...	ORPHA:163649
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical toot...	OMIM:129400
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Abnormal palate morpho...	ORPHA:3270
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Microgn...	ORPHA:2863
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria, Failure to thrive, Skin rash, Megaloblastic an...	ORPHA:79284
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Tented upper lip vermilion,...	OMIM:616362
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Anencephaly 2	Anophthalmia	OMIM:619452
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Microdontia, Joint hypermobility, ...	OMIM:619718
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Small hand, Clinodactyly, Talipes equinovarus, Enamel hypoplasia, E...	OMIM:619980
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Decreased skull ossification...	ORPHA:666
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Delayed erup...	OMIM:112350
Oculodentodigital Dysplasia	Uveitis, Carious teeth, Hip dislocation, Clinodactyly, Selective tooth agenesis, Cleft upper lip,...	OMIM:164200
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Osteopenia, Rhizomelia, Micromelia, Long philtrum, Crumpled long bones...	OMIM:610682
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Non-m...	ORPHA:2710
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Osteopenia, Joint contracture of the hand, Dental malocclusion, Delayed eruption of ...	OMIM:612350
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border	ORPHA:139474
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Short humerus, Lateral fem...	OMIM:239000
Hypophosphatasia, Childhood	Carious teeth, Phosphoethanolaminuria, Premature loss of primary teeth, Elevated urine pyrophosph...	OMIM:241510
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administration, Obesity, Enamel...	OMIM:612462
Gorham-Stout Disease	Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Oste...	ORPHA:73
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Obesity, Joint hypermobil...	OMIM:620511
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s...	OMIM:302350
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Carious teeth, Periodontitis, Oral ulcer, Tubulointerstitial...	ORPHA:79259
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio...	OMIM:114000
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Proteus Syndrome	Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Open mouth, Sp...	OMIM:176920
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Mitten deformity, Scarring alopecia of scalp, Enam...	ORPHA:251393
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis, Increased overbite	OMIM:618504
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Hypophosphatasia, Adult	Carious teeth, Rickets, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Premature loss of p...	OMIM:146300
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Carious teeth, Joint contracture of the hand, Delayed eruption of teeth, Lon...	OMIM:214150
Osteoglosphonic Dysplasia	Rhizomelia, Tooth agenesis, Failure to thrive in infancy, Micrognathia, Inguinal hernia, Multiple...	ORPHA:2645
12Q14 Microdeletion Syndrome	Renal hypoplasia, Downturned corners of mouth, Failure to thrive, Horseshoe kidney, Abnormality o...	ORPHA:94063
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Short distal phalanx of finger, Cleft palate	OMIM:601355
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cutaneous abscess, Chr...	OMIM:619752
Geleophysic Dysplasia 3	Pneumonia, Tracheal stenosis	OMIM:617809
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Genu valgum, Hem...	ORPHA:534
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud...	OMIM:259775
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Oral ulcer, Hernia, Acu...	OMIM:617052
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Shashi-Pena Syndrome	Unilateral renal agenesis, Retrognathia, Thin upper lip vermilion, Cervical C2/C3 vertebral fusio...	OMIM:617190
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Tooth malposition, Clinodactyly, Lymphopenia, Inguin...	OMIM:616541
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ...	ORPHA:2780
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Failure to thrive, Long ...	ORPHA:444072
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Micropenis, Finger joint hypermobility, Cleft palate	OMIM:244200
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Tracheal stenosis, Hypospadias, Tracheomalacia	OMIM:217980
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Dist...	OMIM:259730
Spondyloepimetaphyseal Dysplasia, Shohat Type	Tracheal stenosis, Abnormal bronchus morphology	ORPHA:93352
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,...	OMIM:613823
Eec Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of...	ORPHA:1896
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Anodo...	ORPHA:90652
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Brachytelephalangic Chondrodysplasia Punctata	Tracheal calcification, Tracheal stenosis, Pulmonary artery stenosis, Recurrent respiratory infec...	ORPHA:79345
Oculoskeletodental Syndrome	Short 5th finger, Abnormality of the dentition, Nephrocalcinosis, Retrognathia, Clinodactyly, Hyp...	ORPHA:557003
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Genu valgum, Prominent medi...	OMIM:300602
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Neoplasm of the lung, Abnormal skeletal musc...	ORPHA:142
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, Failure to th...	OMIM:620099
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Microdont...	OMIM:272440
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Micrognathia, Craniosynostosis, Downturned corners of mouth	ORPHA:1064
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Arthritis, Anemia, Increased bone mineral de...	ORPHA:37748
Hydrolethalus	Tracheal atresia	ORPHA:2189
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Open bite, Micrognathia...	ORPHA:2097
Seckel Syndrome 1	Ivory epiphyses, Dental malocclusion, Dental crowding, Selective tooth agenesis, Dislocated radia...	OMIM:210600
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Bifid uvula, Renal malrotation, Abnormal renal collecting system morph...	OMIM:113650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Talipes equinovarus, Short...	OMIM:618845
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Hypospadias, Cone-s...	OMIM:210720
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko...	ORPHA:1775
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Tracheal stenosis, Tracheal calcification	OMIM:302960
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Abnormal dental pul...	ORPHA:416
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
Dermatitis Herpetiformis	Dental enamel pits, Eczematoid dermatitis, Delayed eruption of teeth, Microcytic anemia, Erosion ...	ORPHA:1656
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Unilateral renal agenesis, Reduced natural killer cell count, Ost...	ORPHA:221139
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Clinodactyly of the 5th finger, Decreased body weight, Osteopetrosis, Increased bon...	OMIM:617306
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-...	OMIM:613573
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Scarring alopecia of scalp, Carious teeth	OMIM:619787
Diastrophic Dysplasia	Costal cartilage calcification, Laryngotracheal stenosis, Hip contracture	OMIM:222600
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi...	ORPHA:1452
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Diaphanospondylodysostosis	Tracheomalacia, Delayed vertebral ossification, Nephroblastomatosis, Horseshoe kidney, Nephrogeni...	OMIM:608022
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth	OMIM:183300
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypospadias, Recurrent pneumonia, Short distal phalanx of finger, Dental malocclusion, Recurrent ...	OMIM:619293
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Carious teeth, Keratitis, Scarring alopecia of scalp, Enamel hypoplasia, Conjunctiv...	OMIM:612843
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Aplasia/Hypoplasia of the distal phalanges of the han...	OMIM:113000
Perrault Syndrome 4	Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased...	OMIM:615300
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Elbow ankylosis, Abnormal metacarpal morphology,...	ORPHA:2658
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Clinodactyly, Overlapping toe, Hypospadias, Downturned corners of mouth, Inguinal hernia, Thin up...	ORPHA:487796
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Delayed eruption of teeth, Downturned corners of mouth, Failure to...	ORPHA:2107
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat...	OMIM:618342
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia, Micrognathia, Everted lower lip vermilion, High palate, Sy...	OMIM:611174
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Hydatidiform Mole	Anemia, Hyperthyroidism, Enlarged uterus, Menometrorrhagia	ORPHA:99927
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis	ORPHA:970
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Broad long bon...	OMIM:269300
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi...	OMIM:619797
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Deep philtrum, Micrognathia, Thrombocytopenia	ORPHA:1237
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact...	OMIM:308050
Celiac Disease, Susceptibility To, 1	Rickets, Eczematoid dermatitis, Failure to thrive, Recurrent aphthous stomatitis, Macrocytic anem...	OMIM:212750
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis, High palate, Eunuchoid habitus	OMIM:308750
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Medullary nephrocalcinosis, Hypophosphatemic rickets, Genu valgum, Hyperphosphatur...	OMIM:613312
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Abnormal limb bone morphology, Abnorm...	OMIM:118100
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of the dentition, Camptodactyly of finger, Abnormal dental enamel morphology, Taurodo...	ORPHA:3220
7Q11.23 Microduplication Syndrome	Micrognathia, Short lingual frenulum, Congenital diaphragmatic hernia, High palate, Hypospadias, ...	ORPHA:96121
Potocki-Shaffer Syndrome	Downturned corners of mouth, Micrognathia, Nephroblastoma, Decreased skull ossification, Micropen...	ORPHA:52022
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Extramedullary hematopoiesis, Long philtrum, Cranial hyperostosis, Flared metaphysis,...	OMIM:259720
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi...	OMIM:616202
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Intellectual Disability And Myopathy Syndrome	Atopic dermatitis, Congenital hip dislocation, Dental malocclusion, Limited elbow extension, Thin...	OMIM:619719
Desmosterolosis	Bifid uvula, Renal agenesis, Retrognathia, Failure to thrive, Micromelia, Micrognathia, Narrow mo...	ORPHA:35107
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Tracheal stenosis, Recurrent respiratory infections	ORPHA:2637
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Joint stiffness, Bicoronal synostosis, Oligodontia, Jo...	OMIM:619184
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Leukemia, Osteope...	ORPHA:2909
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Eczematoid derma...	ORPHA:2314
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Recurrent pneumonia, Leukopenia, Thi...	OMIM:617303
Cockayne Syndrome Type 2	Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ...	ORPHA:90322
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca...	ORPHA:79444
Isolated Agammaglobulinemia	Pneumonia, Cellulitis, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash...	ORPHA:229717
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia, Abnormal cartilage matrix, Tracheomalacia, Neonatal death	OMIM:245650
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Retrognathia, Failure to thrive, Micrognathia, 3-Methylglutaconi...	OMIM:604273
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva	ORPHA:517
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Delayed eruption of teeth, Oligosacchariduria, Long philtrum, Clinodactyly, Sple...	OMIM:616354
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal...	OMIM:614592
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl...	OMIM:619736
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Solitary median max...	ORPHA:952
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom...	OMIM:613684
Recessive Dystrophic Epidermolysis Bullosa Inversa	Abnormality of the urinary system, Carious teeth, Atrophic scars, Oral mucosal blisters, Urethral...	ORPHA:79409
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyl...	OMIM:618506
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Natal tooth, Dental malocclusion, Short 1st metacarpal, Short fir...	OMIM:601957
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Talipes equinovarus, Bowed ...	OMIM:612651
Sjogren-Larsson Syndrome	Flexion contracture, Enamel hypoplasia	OMIM:270200
Meckel Syndrome, Type 8	Cleft upper lip, Hyperechogenic kidneys, Polydactyly, Talipes equinovarus, Polycystic kidney dysp...	OMIM:613885
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Mitten deformity, Enamel h...	OMIM:226600
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Congen...	OMIM:154400
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu...	ORPHA:1328
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop...	OMIM:619151
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Bifid distal phalanx of toe, Long philtrum, Cutaneou...	OMIM:618419
Hypophosphatasia	Abnormality of the dentition, Failure to thrive in infancy, Bowing of the long bones, Anemia, Cra...	ORPHA:436
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Abnormality of the ureter, Micrognathia, Narrow mouth, Splenomegaly, Renal hypoplasia...	ORPHA:1046
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Limitation of joint mobility, Progress...	OMIM:252500
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Maxil...	ORPHA:1193
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Limitation of joint mobility, Failure to thrive, Ectopic ossification in li...	ORPHA:337
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microretrogn...	ORPHA:468631
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Eem Syndrome	Carious teeth, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Ectrodactyly, Ab...	ORPHA:1897
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Micromelia, Camptodactyly...	ORPHA:2635
H Syndrome	Bronchiectasis, Cleft upper lip, Osteolysis, Microcytic anemia, Hepatosplenomegaly, Gingival over...	ORPHA:168569
Nail-Patella Syndrome	Thickened glomerular basement membrane, Abnormal tibia morphology, Contracture of the distal inte...	ORPHA:2614
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermil...	OMIM:618874
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, 3-4 toe syndactyly, P...	OMIM:618727
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Schwartz-Jampel Syndrome	Pursed lips, Abnormality of the ureter, Micrognathia, Narrow mouth, Genu valgum, Hip contracture,...	ORPHA:800
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Atelis Syndrome 1	Carious teeth, Eczematoid dermatitis, Long philtrum, Leukopenia, Glue ear, Thrombocytopenia, Anem...	OMIM:620184
Tetrasomy 12P	Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Craniometaphyseal Dysplasia, Autosomal Recessive	Flared metaphysis, Facial hyperostosis, Delayed eruption of permanent teeth, Patchy sclerosis of ...	OMIM:218400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Hypoplasia of the maxilla, Cleft upper lip, Recurrent otitis media, La...	OMIM:213980
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis,...	OMIM:619194
Igg4-Related Thyroid Disease	Tracheal stenosis	ORPHA:64744
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Cockayne Syndrome Type 1	Abnormality of the dentition, Foot joint contracture, Failure to thrive, Widely spaced primary te...	ORPHA:90321
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal hypoplasia, Toe syndactyly, Renal agenesis, Long philtrum, Umbilical hernia, Obesity, Micro...	ORPHA:171839
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Short met...	OMIM:190350
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormal epiphysis morphology, ...	ORPHA:324964
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Natal tooth, Abnormal e...	ORPHA:50945
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Recurrent fractures, Premature loss o...	OMIM:618107
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Delayed eruption of permanent ...	ORPHA:839
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys...	ORPHA:93284
Steatocystoma Multiplex	Natal tooth	OMIM:184500
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Everted upper lip vermilion, Delayed eruption of teeth, Microdont...	ORPHA:181
Aarskog-Scott Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Delayed eruption of teeth, L...	ORPHA:915
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Temple-Baraitser Syndrome	Short distal phalanx of finger, Broad thumb, Delayed eruption of teeth, Everted upper lip vermili...	ORPHA:420561
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal oral mucosa...	ORPHA:85445
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla...	ORPHA:313855
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis, Retrognathia, Submucous cleft hard palate, Fused cervi...	OMIM:619227
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Hydroureter, Delayed eruption...	ORPHA:1458
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Osteopenia, Fractured rib, Metaphyseal spurs, Umbilical hernia, Recurr...	OMIM:618188
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, High palate, Short foot, Long fingers, Unilateral ren...	OMIM:614527
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Delayed ...	ORPHA:93346
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphy...	OMIM:613091
Acrootoocular Syndrome	High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Failure to thrive, Short toe...	ORPHA:2980
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b...	ORPHA:1310
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Ri...	OMIM:307800
Sulfite Oxidase Deficiency, Isolated	Eczematoid dermatitis, Delayed eruption of teeth, Sulfocysteinuria, Decreased urinary sulfate, In...	OMIM:272300
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Downturned corners of mouth,...	ORPHA:1327
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis, High palate, Eunuchoid habitus	OMIM:308700
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica...	ORPHA:79443
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Orofaciodigital Syndrome Xvii	High, narrow palate, Renal hypoplasia, Retrognathia, Clinodactyly, Short middle phalanx of the 2n...	OMIM:617926
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Failure to thrive, Clinodactyly, Micrognathia, Clinodactyly of the 5th...	ORPHA:73272
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra...	OMIM:605282
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Pancytopenia, Micrognathia, Narrow mouth, Proximal renal tubular acidosis, Ell...	ORPHA:2785
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Pancytopenia, Oral ulcer, Impaired neutrophil chemotaxis, Acute m...	ORPHA:811
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me...	OMIM:616943
Craniofacioskeletal Syndrome	Hydronephrosis, Tracheal stenosis, Hypospadias	OMIM:300712
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Dental crowding, Persistence of hemoglobin F, Umbilical hernia, Persistence ...	OMIM:619769
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Scarf Syndrome	Long philtrum, Umbilical hernia, Inguinal hernia, Joint hypermobility, Short sternum, Enamel hypo...	ORPHA:3134
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Trichothiodystrophy	High, narrow palate, Osteopenia, Carious teeth, Increased mean corpuscular hemoglobin concentrati...	ORPHA:33364
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis, Cleft upper lip, Hand polydactyly, Cleft palate	OMIM:236110
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, High palate,...	OMIM:166250
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th ...	ORPHA:2760
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Hypophosphatasia, Infantile	Abnormality of the dentition, Nephrocalcinosis, Unossified vertebral bodies, Metaphyseal cupping,...	OMIM:241500
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Oral mucosal blisters, Urethrovesical occlusion, Enamel hypoplasia, Arthrogryposi...	OMIM:226730
Cockayne Syndrome	Carious teeth, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Cachexia, ...	ORPHA:191
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Syndactyly, Osteolysis involving bones of the upper limbs, Brachydactyly, Camptodac...	ORPHA:88630
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Recurrent fractures	OMIM:126550
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Recurrent otitis media, Micrognathia, Genu valgum, Talip...	OMIM:309350
Coffin-Siris Syndrome 3	Long philtrum, Umbilical hernia, Delayed eruption of permanent teeth, Inguinal hernia, Joint hype...	OMIM:614608
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Agenesis of permanent teeth, Persistence of primary t...	ORPHA:46627
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Recurrent otitis media, Overlapping toe, Micrognathia, Duplicated col...	OMIM:270400
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp...	OMIM:257850
Intellectual Disability, Birk-Barel Type	High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion...	ORPHA:166108
Estrogen Resistance	Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul...	OMIM:615363
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Micrognathia, Open mouth, Narrow ...	OMIM:619356
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia, Hematuria, Proteinuria, Sagittal craniosynostosis, Tubulointerstitial ...	OMIM:616901
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Dilatation of the renal pelvis, Limitation of joint mobility, Clinodactyly,...	ORPHA:95699
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, Interface hepati...	OMIM:243150
Ellis Van Creveld Syndrome	Acute leukemia, Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Renal hypopla...	ORPHA:289
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Carious teeth, Lymphopenia, Aphthous ulcer, Lip fissure, Splenomegaly, Megalob...	OMIM:620603
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Unilateral renal agenesis, Hypoplasia of the premaxilla, Abnorma...	ORPHA:2673
Familial Osteodysplasia, Anderson Type	Tooth malposition, Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Bifi...	ORPHA:2769
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Flexion contracture, Delayed eruption of teeth	OMIM:617105
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Natal tooth, Umbilical hernia, Lymphopenia,...	OMIM:617237
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup...	ORPHA:79404
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe...	ORPHA:3145
Osteogenesis Imperfecta, Type Xviii	Abnormality of the dentition, Umbilical hernia, Micrognathia, Femoral bowing, Joint hypermobility...	OMIM:617952
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Synostosis of carpal b...	ORPHA:2741
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Carious teeth, Decreased skull ossification, Stenosis of the medullary cavity of the ...	ORPHA:93324
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Hydroureter, Urinary retention, Renal...	ORPHA:90324
Craniometaphyseal Dysplasia, Autosomal Dominant	Tooth malposition, Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femu...	OMIM:123000
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth, Tapered finger	OMIM:618825
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper...	ORPHA:221016
Geleophysic Dysplasia 1	Laryngotracheal stenosis, Joint contracture of the hand, Camptodactyly of finger, Tracheal stenos...	OMIM:231050
Sanjad-Sakati Syndrome	Abnormality of the dentition, Patchy osteosclerosis, Small hand, Long philtrum, Abnormal dental e...	ORPHA:2323
Felty Syndrome	Cellulitis, Recurrent pneumonia, Limitation of joint mobility, Recurrent urinary tract infections...	ORPHA:47612
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Short ...	ORPHA:2712
Three M Syndrome 2	Short 5th finger, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Clinodactyly, Sl...	OMIM:612921
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Renal hypoplasia, Microretrognathia, Narrow mouth, Split hand, Camptod...	OMIM:246560
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa...	OMIM:619229
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen...	OMIM:600785
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Delayed eruption of teeth, Long philtrum, Thick lower lip vermili...	OMIM:614607
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia	OMIM:617661
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Micrognathia, Micropenis, Absent radiu...	OMIM:614083
Cranio-Osteoarthropathy	Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis	ORPHA:1525
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l...	ORPHA:100024
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia	OMIM:615085
Chst3-Related Skeletal Dysplasia	Rhizomelia, Delayed eruption of teeth, Long philtrum, Irregular epiphyses, Small epiphyses, Genu ...	ORPHA:263463
Kenny-Caffey Syndrome, Type 1	Small hand, Carious teeth, Slender long bone, Decreased skull ossification, Calvarial osteosclero...	OMIM:244460
Larsen Syndrome	Tracheal stenosis, Bronchomalacia, Tracheomalacia	OMIM:150250
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal bone ossification, Metaphyseal dysplasia, Genu varum, Multiple joint contractures, Thin ...	ORPHA:99646
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis, Hand polydactyly	OMIM:235740
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Hypoplastic ilia, Short distal phalanx of finger, Dental maloc...	ORPHA:1855
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydronephrosis, Tracheal stenosis, Hypospadias, Micropenis	ORPHA:163979
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti...	OMIM:619322
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Long penis, Advanced eruption of teeth, High palate, Mandibular prognathia, Small for gestational...	OMIM:262190
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Obesity, Protruding tongue, Mal...	OMIM:610253
Cranioectodermal Dysplasia 1	Chronic kidney disease, Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted l...	OMIM:218330
Verheij Syndrome	Short 5th finger, Renal hypoplasia, Hip dislocation, Renal agenesis, Long philtrum, Retrognathia,...	OMIM:615583
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ...	ORPHA:2050
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De...	ORPHA:243
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car...	ORPHA:3238
Fanconi Anemia, Complementation Group S	Dental malocclusion, Failure to thrive, Clinodactyly, Thick upper lip vermilion, Macrodontia, Ane...	OMIM:617883
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Chordee, Diaphyseal undertubu...	OMIM:151050
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Oral mucosa...	ORPHA:79403
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Aplastic anemia, Absent thumb, Short thumb, Horseshoe kidney, Nephrobl...	OMIM:610832
8Q24.3 Microdeletion Syndrome	Branchial cyst, Short hallux, Abnormality of the kidney, Cleft maxillary alveolar ridge, Short 5t...	ORPHA:508488
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Failure to thrive, Oligodontia, Hydronep...	ORPHA:2315
Short Syndrome	Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Clinodactyly, Slende...	OMIM:269880
Werner Syndrome	Small hand, Chondrocalcinosis, Neoplasm of the oral cavity, Slender build, Joint stiffness, Lipod...	ORPHA:902
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Leukemia, Short metacarpal, Genu v...	ORPHA:221008
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Keratitis, Retrognathia, Long philtrum, Radial deviation of finger, Elbow flexion ...	OMIM:272430
Hydrolethalus Syndrome 1	Abnormal lung lobation, Tracheal stenosis, Hydronephrosis, Agenesis of the diaphragm, Stillbirth,...	OMIM:236680
Xfe Progeroid Syndrome	Failure to thrive, Corneal scarring, Renal insufficiency, Absence of subcutaneous fat, Proteinuri...	OMIM:610965
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Eczematoid dermatitis, Rhizomelic arm shortening, Lymphopenia, Leukope...	ORPHA:508542
Familial Isolated Hypoparathyroidism	Nephropathy, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Splenomegaly, Advanced eruption of teeth, Glomerulopathy, Lipodystrophy, Pancreatitis...	ORPHA:2348
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Elbow contracture, Tracheal stenosis, Hip contracture, Neurogenic bladder,...	OMIM:617137
Cartilage-Hair Hypoplasia	Tracheal stenosis, Mucopolysacchariduria, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:175
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology	ORPHA:1522
Lead Poisoning	Chronic kidney disease, Small for gestational age, Delayed eruption of teeth, Imbalanced hemoglob...	ORPHA:330015
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Nephrocalcinosis, Delayed eruption of permanent teeth, Gingiva...	OMIM:204690
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Widely spaced teeth, Partial duplication of thumb phalanx, Enamel hyp...	OMIM:620193
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Abnormal femur morphology, Congenital diaphragmatic hernia, Abnorma...	ORPHA:2063
Zttk Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Bifid uvula, Abnormality of the dentition, ...	OMIM:617140
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Renal insufficiency	ORPHA:281090
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F...	OMIM:300554
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal dental ename...	ORPHA:582
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Rickets, Failu...	OMIM:241530
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ...	OMIM:113300
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Delayed eruption of teeth, Long philtrum, Slender...	ORPHA:2616
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr...	ORPHA:50814
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Renal agenesis, Short lingual frenulum, Short philtrum, Widely-spaced ...	OMIM:608980
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis, Osteopenia, Joint hypermobility, Hernia, Talipes equinovarus, Adducted...	OMIM:616603
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Everted lower lip vermilion, High, narrow ...	OMIM:615873
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Natal tooth, Failure to thrive, Tracheomalacia, Thick lower lip ver...	ORPHA:261652
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Premature loss of primary teeth, Abnorm...	ORPHA:667
Kabuki Syndrome 2	Short 5th finger, Natal tooth, Dental malocclusion, Prominent fingertip pads, Horseshoe kidney, R...	OMIM:300867
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Adducted thumb, Brachydactyly	OMIM:620062
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Flexion contracture, Generalized lipodystrophy, Micrognathia, Stage 5 chronic ki...	OMIM:608612
Faciocardiomelic Syndrome	Osteopenia, Dental malocclusion, Slender long bone, Long philtrum, Hyperplasia of the maxilla, La...	OMIM:612731
Ellis-Van Creveld Syndrome	Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypoplastic ...	OMIM:225500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Failure to thrive, Atrophic scars, Oral mucosal blisters, Scarring, Enamel hypopla...	ORPHA:79396
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Dilatation of the renal pelvis, Retrognathia, Short 5th toe, Recurrent...	ORPHA:268261
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, H...	OMIM:309900
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Block vertebrae, Abnormal pelvic girdle bone morphology, Failure of eruptio...	OMIM:272460
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F...	OMIM:300009
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Mandibular prognathia, Carious teeth, Recurrent pneumonia, Chondroitin su...	OMIM:253000
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Widely spaced toes, Sandal gap, Neonatal death, Mitten deformity, Clinodactyly of th...	OMIM:609638
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Nephrocalcinosis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Ir...	OMIM:240300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Arthrogryposis multiplex congenita, Recurrent otitis media, Internally rotated shoulders, Hepatos...	OMIM:619503
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Flat acetabular roof, Cleft lip, Hamartoma of tongue, Fibular hypoplasi...	OMIM:616300
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Conjunctivitis, Camptodactyly of finger, Recurrent aphthous stoma...	ORPHA:575
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Tracheoesophageal fistula	OMIM:189960
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Immunodeficiency 32B	Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, He...	OMIM:226990
Hypomagnesemia 3, Renal	Chronic kidney disease, Genu valgum, Hypomature enamel, Hematuria, Macroscopic hematuria, Short m...	OMIM:248250
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Bifid ureter, Large for g...	ORPHA:500095
Kleefstra Syndrome	Limitation of joint mobility, Hernia, Talipes equinovarus, Everted lower lip vermilion, Hypospadi...	ORPHA:261494
Scalp-Ear-Nipple Syndrome	Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Broad thumb, Finger syndactyly, Agenesi...	OMIM:181270
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Abnormal lung lobation, Tracheal stenosis, Ureteropelvic junction o...	ORPHA:818
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Leishmaniasis	Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp...	ORPHA:507
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea...	ORPHA:785
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased body weight, Abnormal cortical bone morphology, Renal tubular dysfunction, Prominence o...	OMIM:614886
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Toe syndactyly, Branchial fistula, Long philtrum, Camptodactyly of fin...	ORPHA:261337
Teeth Present At Birth	Natal tooth	OMIM:187050
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm...	OMIM:305100
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Recon Progeroid Syndrome	Dental crowding, Long thumb, Prominence of the premaxilla, Joint hypermobility, Smooth philtrum, ...	OMIM:620370
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Osteo...	OMIM:612840
Genitopatellar Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Microgn...	ORPHA:85201
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Everted upper lip vermilion, Failure to thri...	OMIM:619824
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Narrow mouth, Talipes equin...	OMIM:611209
Pachyonychia Congenita	Natal tooth, Failure to thrive, Oral leukoplakia, Angular cheilitis, Advanced eruption of teeth	ORPHA:2309
Familial Cold Autoinflammatory Syndrome 1	Renal amyloidosis, Aphthous ulcer, Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Natal tooth, Cranial hyperostosis, Oligodontia	OMIM:601345
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Hydroureter, Dental crowding, Micrognathia, Delayed eruption of primar...	OMIM:616367
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Elbow flexion contracture, Renal insufficiency, Knee flexion contract...	OMIM:608836
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Patchy osteosclerosis, Small hand, Long philtrum, Micrognathia, Thin upper lip vermi...	OMIM:241410
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Keloids, Delayed eruption of teeth, Re...	OMIM:601812
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Hyp...	ORPHA:93357
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Failure to thrive, Lymphopenia, Neutropenia, Eclabion	OMIM:616395
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Umbilical hernia, Inguinal ...	OMIM:312830
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary...	ORPHA:247768
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Downturned corners of mouth, Retrogna...	ORPHA:2409
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Yellow-brown discoloration of the teeth, Delayed er...	ORPHA:1031
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Abnormality of the dentition, Renal hypoplasia, Dental malocclusion, Thick lower lip vermilion, U...	ORPHA:85321
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Short distal phalanx of finger, Cone-shaped epiphyses of the middle phalanges of the hand, Distal...	OMIM:606895
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Dental malocclusion, Deviation of fing...	OMIM:269500
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Failure to thrive, Widely spaced teeth, Open mouth, Advanced eruptio...	OMIM:617865
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hyperphosphaturia, Tooth abscess, Iron deficiency anemia, Bowing of the legs	ORPHA:89937
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Talipes equinovarus, High palate,...	OMIM:619148
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build, Thick vermilion...	ORPHA:364028
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Delayed eruption of teeth, Genu valgum, Short humer...	OMIM:600373
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Carious teeth, Genu valgum, Hepatomegaly, Bilateral talipes equinovarus, ...	OMIM:253010
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Microphthalmia, Lenz Type	Abnormality of the dentition, Hydroureter, Delayed eruption of teeth, Finger syndactyly, Camptoda...	ORPHA:568
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Micrognathia, Splenomegaly, Crusti...	OMIM:170100
X-Linked Agammaglobulinemia	Cellulitis, Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Ski...	ORPHA:47
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Failure to thrive...	ORPHA:476126
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Failure to thrive, Micrognathia, Alveolar ridge overgr...	OMIM:602398
4H Leukodystrophy	Hypodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:289494
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Failure to thrive, Thick upper lip verm...	OMIM:247200
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Absent frontal si...	OMIM:154780
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Conjunctivitis, Failure to thrive, Lymphopenia, Splenomegaly, Skin rash, Myositi...	OMIM:617591
Cornelia De Lange Syndrome 1	Micrognathia, Congenital diaphragmatic hernia, High palate, Dislocated radial head, Ectopic kidne...	OMIM:122470
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Nephrocalcinosis, Broad distal phalanx of finger, Dental crowding, Delayed eruption ...	OMIM:300990
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Pr...	OMIM:230600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the temporomandibular joint, Abnormal shoulder morphology, Hep...	ORPHA:85408
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Splenomegaly, Sclerosing cholangitis, Oligodontia, Hypodontia, Enamel hypoplasia, Hepatomegaly	OMIM:607626
Distal Duplication 5Q	Carious teeth, Absent thumb, Eczematoid dermatitis, Long philtrum, Micrognathia, Narrow mouth, He...	ORPHA:96097
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Renal insufficiency, Skin rash, Abnormal metaphysis...	ORPHA:35687
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Renal agenesis, Joint stiffness, Micrognathi...	ORPHA:2516
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Abnormality of the dentition, Failure to thrive, Enamel hypoplasia, Wide mouth	OMIM:615802
Digeorge Syndrome	Recurrent otitis media, Micrognathia, High palate, Renal dysplasia, High, narrow palate, Obesity,...	OMIM:188400
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, Large hands, High palate, Sho...	ORPHA:192
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ...	OMIM:200990
Rothmund-Thomson Syndrome, Type 3	Osteopenia, Short distal phalanx of finger, Microretrognathia, Decreased body weight, Talipes equ...	OMIM:615789
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, A...	ORPHA:60032
Congenital Myopathy 17	Hand clenching, Renal hypoplasia, Dental malocclusion, Clinodactyly, Long philtrum, Failure to th...	OMIM:618975
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper...	OMIM:619902
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Eczematoid dermatitis, Acne inversa, Scarring alopecia of scalp, Short philtrum, Cle...	OMIM:617337
Dyrk1A-Related Intellectual Disability Syndrome	Acromesomelia, Unilateral renal agenesis, Hypospadias, Toe syndactyly, Eczematoid dermatitis, Fai...	ORPHA:464306
Alg9-Cdg	Micrognathia, Talipes equinovarus, Broad ischia, Abnormal bone ossification, Hepatomegaly, Thin u...	ORPHA:79328
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Proximal renal tubular...	OMIM:309000
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate	OMIM:615502
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Abnormality of connective tissue,...	ORPHA:79128
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney, Absent thumb, Absent radius	OMIM:179280
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Fibular bowing, F...	OMIM:600081
Cockayne Syndrome A	Carious teeth, Limitation of joint mobility, Square pelvis bone, Hypoplastic iliac wing, Reduced ...	OMIM:216400
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Atrophic scars, Vesicoureteral reflux, Joint hypermobility, Increased ...	OMIM:606408
Andersen-Tawil Syndrome	Abnormality of the dentition, Renal hypoplasia, Hypoplasia of the maxilla, Dental crowding, Small...	ORPHA:37553
Seckel Syndrome 7	Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea	OMIM:614851
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo...	ORPHA:249
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b...	ORPHA:1946
Mandibuloacral Dysplasia	Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,...	ORPHA:2457
Sotos Syndrome	High, narrow palate, Long metacarpals, Genu valgum, Narrow jaw, Otitis media, Joint hypermobility...	OMIM:117550
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f...	OMIM:616738
Prolidase Deficiency	Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphology, Micrognathia, Genu...	ORPHA:742
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Downturned corners of mouth, Retrognathia, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Prote...	OMIM:301110
Jalili Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta	ORPHA:1873
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, High palate, Polycystic kidney dysplasia, Syndactyly,...	OMIM:311200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin...	ORPHA:280365
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly...	OMIM:618963
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormality of the urinary system, Retrognathia, Long philtrum, Contractures...	ORPHA:96092
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Broad hallux, Open mouth, Inguinal hernia, Joint hypermobility, Postax...	ORPHA:457284
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Hypoplasia of the maxilla, Microglossia, Microretrognathia, Aplasia/Hypoplasia ...	ORPHA:1307
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st metacarpal, Bilateral renal agene...	OMIM:620305
Gapo Syndrome	Abnormal pelvic girdle bone morphology, Delayed eruption of teeth, Long philtrum, Umbilical herni...	ORPHA:2067
Muckle-Wells Syndrome	Renal amyloidosis, Recurrent aphthous stomatitis, Leukocytosis, Renal insufficiency, Conjunctivit...	OMIM:191900
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Horseshoe kidney, Abnormal dental morphology, Hypophosphatemic rickets, Hyperphosphat...	OMIM:163200
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurren...	OMIM:618849
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Micrognathia, Reduced subcutaneous adipose tissue, Loss...	OMIM:248370
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Conjunctivitis, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary gly...	ORPHA:505248
Immunodeficiency 27A	Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Increa...	OMIM:209950
Atelosteogenesis Type I	Laryngotracheal stenosis, Multiple renal cysts, Pulmonary hypoplasia	ORPHA:1190
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Erythema nodosum	OMIM:611762
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Increased mean corpuscular volume, Aplastic anemia, Oral leukoplakia, Lymphopenia,...	OMIM:127550
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hashimoto thyroiditis, Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia	ORPHA:83601
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Osteopenia, Shallow acetabular fossae, Hypoplasia of the capi...	OMIM:242900
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Small hand, Dental crowding, Natal tooth, Long philtrum, Micrognathia, ...	OMIM:145420
Laryngomalacia	Abnormal tracheal morphology	OMIM:150280
Aspartylglucosaminuria	Abnormality of the dentition, Carious teeth, Umbilical hernia, Joint stiffness, Aspartylglucosami...	ORPHA:93
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Persistence of primary teeth, Cortical thickening of long bone diaphyses, Decrease...	ORPHA:93325
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular aplasia, Microg...	OMIM:300373
Poikiloderma With Neutropenia	Recurrent pneumonia, Carious teeth, Retrognathia, Long philtrum, Recurrent otitis media, Leukopen...	OMIM:604173
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Stüve-Wiedemann Syndrome	Abnormality of the dentition, Osteopenia, Limitation of joint mobility, Smooth tongue, Micromelia...	ORPHA:3206
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Frank-Ter Haar Syndrome	Micrognathia, Bowing of the long bones, Talipes equinovarus, Prominent coccyx, Bilateral talipes ...	OMIM:249420
Trisomy 13	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:3378
Fraser Syndrome	Abnormal lung lobation, Tracheal stenosis, Death in infancy, Urethral atresia, Hypoplasia of peni...	ORPHA:2052
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Widely spaced teeth, Aspiration pneumonia, Gingival overgrowth, Spleno...	OMIM:301072
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Otitis media, Oral ulcer, Skin rash, I...	ORPHA:3392
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Micrognathia, Aplasia/Hypoplasia of the thumb, High pala...	ORPHA:235
Nephronophthisis 3	Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein...	OMIM:604387
Hennekam Syndrome	Abnormal oral mucosa morphology, Finger syndactyly, Delayed eruption of teeth, Retrognathia, Toot...	ORPHA:2136
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increase...	OMIM:602080
Kaposiform Lymphangiomatosis	Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Abnormal femur morphology, Splenomeg...	ORPHA:464329
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Plantar flexion contracture, Contracture of the proximal interphalange...	ORPHA:2872
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Gaucher Disease	Gingival bleeding, Pancytopenia, Hematuria, Hepatomegaly, Abnormal bone structure, Osteopenia, Os...	ORPHA:355
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Oliguria, Renal insufficiency, Narrow foramen obturatorium, Arthritis, Flexion con...	ORPHA:220393
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Downturned corners of mouth, Abnormal mandible morphology, Long philtr...	ORPHA:2215
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Failure to thrive, Short toe, ...	ORPHA:464311
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Abnormal hemidiaphragm morphology, Ureteral stenosis, Abnor...	ORPHA:2257
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H...	ORPHA:2237
Lacrimoauriculodentodigital Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Keratoconjunctiviti...	ORPHA:2363
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Craniolenticulosutural Dysplasia	Bifid uvula, Osteopenia, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtrum...	OMIM:607812
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Mucopolysaccharidosis, Type Vi	Pneumonia, Epiphyseal dysplasia, Carious teeth, Hypoplastic acetabulae, Delayed eruption of teeth...	OMIM:253200
Poems Syndrome	Visceromegaly, Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull b...	ORPHA:2905
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Delayed eruption of teeth, Clinodactyly, Thick vermilion border, ...	OMIM:615866
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Hypocalciuria, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Hy...	ORPHA:73223
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, H...	ORPHA:1652
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Bowing of the long bones, Lipodystrophy, Odontogenic kerat...	ORPHA:199276
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Abnormal thumb morphology, Microdontia, Duplication of thumb phalan...	OMIM:620192
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Microretrognathia, Clinodactyly, Down-sloping shoulders, Rena...	OMIM:615560
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Brachydactyly, Clinodactyly of the ...	ORPHA:236
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Narrow mouth, Proteinuria...	ORPHA:261222
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Hypodontia, Ankylos...	ORPHA:659
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis...	ORPHA:2908
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Micrognathia, Genu valgum, Radioulnar synostosis,...	ORPHA:904
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria, Failure to thrive, Umbilical hernia, Large for gestational age, Thrombo...	OMIM:614520
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Delayed eruption of teeth, Eczematoid dermatitis, Thick lower lip vermilion,...	ORPHA:369950
Leopard Syndrome 1	Unilateral renal agenesis, Hypospadias, Limited elbow movement, Micropenis, Mandibular prognathia...	OMIM:151100
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Mandibular prognathia, Small hand, Delayed eruption of teeth, Short t...	OMIM:268400
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal dea...	OMIM:146510
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto...	OMIM:619281
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Atypical scarring of skin, Erythrodontia, Pathologic f...	OMIM:263700
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th...	OMIM:158330
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Hip dislocation	OMIM:614381
Cranioectodermal Dysplasia 3	2-4 toe syndactyly, Nephronophthisis, Rhizomelia, Sandal gap, Widely spaced teeth, Micrognathia, ...	OMIM:614099
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati...	OMIM:618476
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Congenital Tracheal Stenosis	Abnormal lung morphology, Abnormal tracheal morphology, Abnormal lung lobation, Abnormality of th...	ORPHA:141127
Robinow Syndrome	Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Marked delay in eru...	ORPHA:97360
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Pulmonary lymphangiectasia, Abnormal tracheal morphology	OMIM:616006
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Carious teeth, IgA deposition in the glomerulus, Ankyloglossia, Narrow mo...	ORPHA:79408
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Primary Hyperoxaluria Type 1	Abnormality of the dentition, Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tr...	ORPHA:93598
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Recurrent otitis media, Overlapping toe, Protruding tongue, Neutrophilia, Hepa...	ORPHA:99843
Aggressive Systemic Mastocytosis	Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro...	ORPHA:98850
Pachyonychia Congenita 2	Angular cheilitis, Folliculitis, Natal tooth, Oral leukoplakia	OMIM:167210
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Oral leukoplakia, Failure to thrive, Premature loss of teeth	OMIM:616353
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Neonatal death, Hepatomegaly, Short foot, Short toe, Hamartoma...	OMIM:269860
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Anemia, Pelvic kidney	OMIM:617244
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Cl...	ORPHA:158687
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Delayed eruption of teeth, Failure to thrive, Umbilical h...	ORPHA:2962
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Bifid uvula, Hyperextensibility at elbow, D...	ORPHA:500150
Autoimmune Hypoparathyroidism	Conjunctivitis, Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Increased bone minera...	ORPHA:36913
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Renal dysplasia, Access...	OMIM:277170
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, An...	ORPHA:95430
Generalized Pustular Psoriasis	Lymphopenia, Obesity, Leukocytosis, Renal insufficiency, Palmoplantar pustulosis, Pustule, Erythr...	ORPHA:247353
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Microgna...	OMIM:266920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Decreased number of sternal ossification centers, Recurrent p...	OMIM:234100
Schisis Association	Unilateral cleft lip, Micromelia, Renal agenesis, Congenital diaphragmatic hernia, Omphalocele, S...	ORPHA:63862
Acute Promyelocytic Leukemia	Gingival bleeding, Pancytopenia, Leukopenia, Leukocytosis, Gingival overgrowth, Hematuria, Weight...	ORPHA:520
Familial Benign Copper Deficiency	Anemia, Deep philtrum, Acne, Diaphyseal undertubulation	ORPHA:1551
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Long hallux, Smooth...	OMIM:309583
Incontinentia Pigmenti	Keratitis, Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental...	ORPHA:464
Proteus Syndrome	Carious teeth, Finger syndactyly, Open mouth, Cachexia, Abnormal metacarpal morphology, Calvarial...	ORPHA:744
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypodontia, Delayed eruption of teeth, Oligodontia	ORPHA:447896
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Talipes equinovar...	OMIM:312870
Oculoskeletodental Syndrome	Renal agenesis, Elbow flexion contracture, Splenomegaly, Oligodontia, Hypercalciuria, Mucopolysac...	OMIM:618440
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Micrognathia, Natal tooth	OMIM:617802
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Failure to thrive, Pancytopenia, Skin r...	OMIM:277380
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Delayed eruption of primary teeth, Absence of Sten...	OMIM:149730
Ogden Syndrome	Everted upper lip vermilion, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Hig...	OMIM:300855
Stickler Syndrome	Open bite, Slender build, Micrognathia, Genu valgum, Arachnodactyly, Short hard palate, Cachexia,...	ORPHA:828
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Eczematoid dermatitis, Abnormal epiph...	ORPHA:2796
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Knee flexion contracture, Hydronephrosis, Hepatomegaly, Short long bon...	OMIM:620454
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Horseshoe kidney,...	OMIM:600057
Alpha-Thalassemia	Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemoglobin Barts, He...	ORPHA:846
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Talipes equinovarus, Leukemia, H...	OMIM:180849
Singleton-Merten Syndrome 1	Carious teeth, Shallow acetabular fossae, Hypoplastic distal radial epiphyses, Genu valgum, Decre...	OMIM:182250
Proboscis Lateralis	Unilateral renal agenesis, Abnormality of the maxillary sinus, Abnormal facial skeleton morpholog...	ORPHA:141099
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula...	ORPHA:3464
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Tracheomalacia, Micro...	ORPHA:2108
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Hydroureter, Failure to thrive, ...	OMIM:269150
Atypical Werner Syndrome	Limitation of joint mobility, Neoplasm of the oral cavity, Sclerosis of hand bone, Generalized li...	ORPHA:79474
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Oral ulcer, Neutropenia, Hepatomegaly...	OMIM:612541
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Carious teeth, Failure to thrive, Ankyloglossia, Narrow mouth, Decreas...	ORPHA:89842
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synosto...	ORPHA:798
Omenn Syndrome	Pneumonia, Failure to thrive, Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomega...	ORPHA:39041
Beckwith-Wiedemann Syndrome	Nephropathy, Congenital diaphragmatic hernia, Hepatomegaly, Visceromegaly, Polycythemia, Obesity,...	ORPHA:116
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Diamond-Blackfan Anemia 21	Short toe, Sandal gap, Preaxial hand polydactyly, Obesity, Micrognathia, Narrow mouth, Genu valgu...	OMIM:620072
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Neonatal death, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius,...	OMIM:314390
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Umbilical hernia, Large for gestational age, Narrow mou...	ORPHA:77301
Renal-Hepatic-Pancreatic Dysplasia 2	Femoral bowing, Talipes equinovarus, Stillbirth, Hepatomegaly, Asplenia, Enlarged kidney, Cystic ...	OMIM:615415
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ...	OMIM:232200
Cockayne Syndrome B	Carious teeth, Limitation of joint mobility, Square pelvis bone, Hypoplastic iliac wing, Reduced ...	OMIM:133540
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Mandibular prognathia, Long penis, Downturned corners of mouth, D...	OMIM:135500
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Failure to thrive, Proximal femoral epiphysiolysis, Persistence of hemoglobin F...	OMIM:260400
Fanconi Anemia, Complementation Group P	Absent thumb, Short thumb, Horseshoe kidney, Pancytopenia, Micrognathia, Hypoplasia of the radius...	OMIM:613951
Focal Dermal Hypoplasia	Toe syndactyly, Congenital diaphragmatic hernia, Foot polydactyly, Short metacarpal, Inguinal her...	OMIM:305600
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Nephrolithiasis, Abnormality of the kidney, Lo...	ORPHA:521445
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Small for gestational age, Failure to thrive, Neonatal death	OMIM:620024
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Protruding tongue, Absent frontal sinuses, Talipes equinovarus, Widely-spaced maxil...	OMIM:301040
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Red-brown urine, Purple urine, Erythrodontia, Erythroid hype...	ORPHA:95159
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Delayed eruption of teeth, Eczemato...	OMIM:223370
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Everted lower lip vermili...	OMIM:280000
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Hypophosphatemic ric...	OMIM:276700
Pitt-Hopkins Syndrome	Tooth malposition, Small hand, Failure of eruption of permanent teeth, Failure to thrive, Finger ...	ORPHA:2896
Developmental And Epileptic Encephalopathy 100	Small hand, Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tent...	OMIM:619777
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Aplastic anemia, Oral leukoplakia, Pancytopenia, Microdontia, Thrombocytopenia, Os...	OMIM:224230
Kenny-Caffey Syndrome, Type 2	Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Anemia, In...	OMIM:127000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu valgum, Talipes equinovarus, Flattened epiphysis, Dislocated radial head, High palate, Short...	OMIM:143095
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Failure to thrive, Clinodactyly, Lymphopenia, Corneal scarring, Micrognathia, V...	OMIM:618460
Congenital Erythropoietic Porphyria	Scleritis, Keratoconjunctivitis, Increased connective tissue, Poikilocytosis, Seborrhoeic blephar...	ORPHA:79277
Gaucher Disease Type 1	Splenic infarction, Gingival bleeding, Osteopenia, Erlenmeyer flask deformity of the femurs, Path...	ORPHA:77259
Mirage Syndrome	Hypospadias, Microphallus, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficie...	OMIM:617053
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia...	ORPHA:124
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Upper lip pit, Atypical scarring of skin, Renal agenesis, Tooth age...	ORPHA:1297
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Micrognathia, Malar flattening, Macrocytic anemia, Renal duplicati...	OMIM:613309
Marden-Walker Syndrome	Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Renal hypoplasia/aplasia, Arachnodactyl...	ORPHA:2461
Ramon Syndrome	Delayed eruption of teeth, Decreased body weight, Juvenile rheumatoid arthritis, Narrow palate, G...	OMIM:266270
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Spondyloocular Syndrome	Abnormality of the dentition, Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly,...	OMIM:605822
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Recurrent urinary tract infections, Thick lower lip vermilion, Join...	ORPHA:847
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypospadias, Hy...	OMIM:211380
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Renal agenesis, Failure to thrive, Finger clinodactyly, Ha...	ORPHA:2754
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Hip dislocation, Keratitis, Renal agenes...	OMIM:308205
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Micrognathia, Dec...	OMIM:617925
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F...	ORPHA:87
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent pneumonia, Recurrent urinary tract infections, Hepatospl...	ORPHA:731
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Broad thumb, Hypospadias, Keloids, Obesity, Avascular necrosis of the...	ORPHA:353281
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Finger syndactyly, Widely spaced teeth, Abnormal dental...	ORPHA:1071
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, Eos...	OMIM:304790
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:609441
Psoriasis 14, Pustular	Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu...	OMIM:614204
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Abnormal hip bone morpholo...	ORPHA:3353
15q26 overgrowth syndrome	Mandibular prognathia, Duplication of renal pelvis, Renal agenesis, Long philtrum, Horseshoe kidn...	DECIPHER:81
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Abnormal dental morpho...	OMIM:277600
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Hematuria, Proteinuria, Hepato...	ORPHA:77261
Radio-Renal Syndrome	High, narrow palate, Multicystic kidney dysplasia, Renal agenesis, Downturned corners of mouth, R...	ORPHA:3015
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Barber-Say Syndrome	Wide mouth, Delayed eruption of teeth, Failure to thrive	ORPHA:1231
Trisomy 1Q	Anophthalmia	ORPHA:261344
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia	OMIM:610706
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Thick lower lip vermilion, Recurrent urinary tract infecti...	ORPHA:404448
Floating-Harbor Syndrome	Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Broad fingertip, Dislocated radial h...	ORPHA:2044
Bnar Syndrome	Abnormal fifth toe morphology, Short lingual frenulum, Renal agenesis	ORPHA:217266
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:793
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal tracheobr...	ORPHA:133
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Carious teeth, Delayed eruption of teeth, Long philtrum, ...	ORPHA:2834
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R...	OMIM:613673
Incontinentia Pigmenti	Conical tooth, Keratitis, Delayed eruption of teeth, Leukocytosis, Oligodontia, Hypodontia, Eosin...	OMIM:308300
Microphthalmia, Syndromic 9	Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s...	OMIM:601186
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Retrognathia, Hepatosplenomegaly, Micrognathia, Open mouth, Splenome...	OMIM:608013
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia, Abnormality of the urinary system, Natal tooth, Cleft lip, Long p...	ORPHA:2745
Autosomal Recessive Spastic Paraplegia Type 77	Detrusor sphincter dyssynergia, Macrodontia of permanent maxillary central incisor, Retrognathia,...	ORPHA:466722
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Osteopetrosis, Splenomegaly	OMIM:618541
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Nephrocalcinosis, Long penis, Dental crowding, Furrowed tongue, Gin...	ORPHA:769
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Osteopenia, Hip dislocation, Pyelonephritis, Inguinal hernia, Joint hy...	ORPHA:90348
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Overlapping toe, Gingival overgrowth, Narrow mouth, Mala...	OMIM:123790
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Urinary retention, Eczematoid dermatitis, Widely spaced teeth, Delayed eruption ...	OMIM:617799
Ichthyosis, Congenital, Autosomal Recessive 11	Blepharitis, Conical primary incisor	OMIM:602400
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O...	ORPHA:31205
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Recurrent pneumonia, Carious teeth, Failure to thrive, Chapped lip,...	ORPHA:158668
Doors Syndrome	Aspiration pneumonia, Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of ...	ORPHA:79500
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Broad phalanges of the hand, Short f...	OMIM:608328
Leprechaunism	Nephrocalcinosis, Long penis, Failure to thrive, Reduced subcutaneous adipose tissue, Decreased b...	ORPHA:508
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Aplastic anemia, Oral leukoplakia, Pancytopenia, Leukopenia, Avascular necrosis of th...	OMIM:613990
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Kallmann Syndrome	Renal agenesis, Tooth agenesis, Obesity, Micropenis, Hypoplasia of penis, Reduced bone mineral de...	ORPHA:478
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu...	OMIM:614188
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Duplication of renal pelvis, Delayed eruption of teeth, Recurrent u...	ORPHA:2036
Acrocephalopolydactylous Dysplasia	Micromelia, Polysplenia, Omphalocele, Postaxial hand polydactyly, Hepatomegaly, Craniosynostosis,...	OMIM:200995
Icf Syndrome	Umbilical hernia, Lymphopenia, Micrognathia, Protruding tongue, Anemia, Macroglossia, Abnormality...	ORPHA:2268
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Open mouth, Ureteropelvic junction obstruction, Exaggerated cupid's bow, S...	OMIM:300896
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,...	OMIM:110100
Microphthalmia, Syndromic 2	Hand clenching, Decreased body weight, Contracture of the proximal interphalangeal joint of the 2...	OMIM:300166
Floating-Harbor Syndrome	Carious teeth, Broad thumb, Recurrent otitis media, Broad fingertip, Dislocated radial head, Hypo...	OMIM:136140
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Renal agenesis, Abnormality of the ureter, Joint stiffnes...	ORPHA:3027
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Tracheal stenosis, Vesicoureteral reflux, Abnormality...	ORPHA:261537
Gaucher Disease, Type Ii	Failure to thrive, Splenomegaly, Hepatomegaly, Trismus, Thrombocytopenia, Anemia, Recurrent aspir...	OMIM:230900
Coffin-Siris Syndrome	Short 5th finger, Hypospadias, Delayed eruption of teeth, Clinodactyly, Thick lower lip vermilion...	ORPHA:1465
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Carious teeth, Microretrognathia, Delayed eruption of tee...	OMIM:278250
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co...	OMIM:619638
Ctcf-Related Neurodevelopmental Disorder	Narrow mouth, Joint contracture of the 5th finger, Osteopenia, Prominent fingertip pads, Inguinal...	ORPHA:363611
Beta-Thalassemia Intermedia	Osteopenia, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepa...	ORPHA:231222
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Failure to thrive, Microcytic anemia, Ankyloglossia, Recurrent otitis media...	OMIM:619525
Gapo Syndrome	High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Umbilical hernia...	OMIM:230740
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Carious teeth, Cleft lip, Long philtrum, Horseshoe kidney, Elbow flex...	OMIM:117650
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept...	ORPHA:98849
Gracile Bone Dysplasia	Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t...	ORPHA:906
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Tracheal stenosis, Vesic...	ORPHA:261552
Mowat-Wilson Syndrome	Webbed penis, Multicystic kidney dysplasia, Tracheal stenosis, Vesicoureteral reflux, Hydronephro...	ORPHA:2152
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Pathologic fracture, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated ur...	OMIM:259900
Dyskeratosis Congenita, X-Linked	Carious teeth, Oral leukoplakia, Conjunctivitis, Horseshoe kidney, Pancytopenia, Leukopenia, Phim...	OMIM:305000
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Ankyloglossia, Limited hip movement, Micrognathia, Short lingual fr...	ORPHA:740
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Micrognathia, Congenital diaphragmatic ...	ORPHA:199
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ...	ORPHA:438216
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Nephroblastoma, Multiple lipomas, Seborrheic dermatitis, Foot p...	ORPHA:276280
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Failure to thrive, Recurrent urinary tract infections, Slender build, Pancyt...	OMIM:613658
Familial Mediterranean Fever	Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Aphtho...	OMIM:249100
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Talip...	OMIM:264090
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, Micrognathia, B...	OMIM:249000
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Decrea...	ORPHA:3472
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous ...	OMIM:147060
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Laryngotracheal stenosis, Recurrent pneumonia, Horseshoe kidney, Elbow flexion contracture, Dista...	ORPHA:508533
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Abnormality of the kidney, High palate, Hy...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Abnormality of the kidney, High palate, Hy...	ORPHA:353277
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Absent...	OMIM:227650
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Long philtrum, Short toe, Umbilical hernia, Advanced eruption of teeth, Orofac...	ORPHA:1519
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczematoid dermatitis, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leu...	OMIM:615688
Acrorenal-Mandibular Syndrome	Narrow palate, Hypoplastic scapulae, Toe syndactyly, Renal agenesis, Rudimentary fibula, Aplasia ...	OMIM:200980
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Toe syndactyly, Ureterocele, Absence of Stensen duct, Duplicated collecting system...	OMIM:604292
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Absent...	OMIM:600901
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr...	ORPHA:2973
Degcags Syndrome	Chronic kidney disease, Toe syndactyly, Hepatosplenomegaly, Pancytopenia, Micrognathia, Protrudin...	OMIM:619488
Polycythemia Vera	Gingival bleeding, Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombo...	ORPHA:729
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Restrictive Dermopathy 1	Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ankylosis, Mic...	OMIM:275210
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Inguinal hernia, Submucou...	ORPHA:2250
Renal-Hepatic-Pancreatic Dysplasia 1	Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia,...	OMIM:208540
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Toe syndactyly, Ureterocele, Absence of Stensen duct, Duplicated collecting system...	OMIM:129900
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Leukocytosis, Pustule, Eosinop...	ORPHA:293173
Fanconi Anemia, Complementation Group F	Pneumonia, Renal hypoplasia, Absent thumb, Failure to thrive, Microphallus, Short thumb, Leukopen...	OMIM:603467
Familial Adenomatous Polyposis 1	Carious teeth, Keloids, Eruption failure, Multiple lipomas, Odontoma, Supernumerary tooth	OMIM:175100
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia	OMIM:618458
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Renal hypoplasia, Small hand, Lymphopenia, Micrognath...	OMIM:620005
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Elevated urine mevalon...	OMIM:260920
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Horseshoe kidney, Abnormality of the kidney, Vertebral fusion, Ectopic...	ORPHA:3109
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Delayed eruption of teeth, Retrognathia, Micromelia, Open mouth, Deep philt...	ORPHA:1675
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Mandibular prognathia, Renal agenesis, Horsesh...	ORPHA:93111
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Renal agenesis, Polysplenia, Failure to thrive, Hors...	OMIM:306955
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Recurrent otitis media, Slender build, Narrow mouth, Reduced subcutaneous adipose ti...	ORPHA:3455
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Bronchomalacia, Tra...	OMIM:617180
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Posterolateral d...	OMIM:194080
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Polysplenia, Non-midline cleft of the upper lip...	ORPHA:1335
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Renal hypoplasia/aplasia, Genu ...	ORPHA:2753
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Absent...	OMIM:227645
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip, Failure to thrive	OMIM:620519
Immunodeficiency 82 With Systemic Inflammation	Pustular rash, Osteomalacia, Recurrent otitis media, Oral ulcer, Weight loss, Recurrent skin infe...	OMIM:619381
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:206900
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Dislocated radial head, High ...	OMIM:135900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Fryns Syndrome	Joint contracture of the hand, Hypospadias, Renal agenesis, Prominent fingertip pads, Omphalocele...	OMIM:229850
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Good Syndrome	Recurrent urinary tract infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, A...	ORPHA:169105
Vacterl With Hydrocephalus	Anophthalmia, Microphthalmia	ORPHA:3412
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, Gi...	OMIM:116920
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Decreased body weight, Limited elbow mo...	OMIM:261540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis	OMIM:246400
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density	OMIM:620558
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Recurrent pneumonia, Splenomegaly, Hepatomegaly, Femur fract...	OMIM:612301
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Failure to thrive, Oroticaciduria, Leukopenia, S...	OMIM:222700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Atypical scarring of skin, Septic arthritis, Painless fractures due to in...	ORPHA:642
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Macroglossia, Enlarged kidney	OMIM:261740
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Sclerosi...	OMIM:619727
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Abnormal lung morphology, Flexion contracture, Anomalous tracheal cartilage	ORPHA:35173
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Microretrognathia, Broad hallux, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent urinary tract in...	OMIM:300755
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Renal hypoplasia/aplasia, A...	ORPHA:2538
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Oral leukoplakia, Erysipelas, Leukocytosis, Splenomegaly, Skin ras...	ORPHA:342
Holoprosencephaly	Anophthalmia, Microphthalmia	ORPHA:2162
Cerebrofacioarticular Syndrome	Renal hypoplasia, Tracheomalacia, Abnormal tracheal morphology, Camptodactyly, Hypospadias	ORPHA:314679
Idiopathic Aplastic Anemia	Gingival bleeding, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca, Neonatal death	OMIM:615709
Gardner Syndrome	Abnormality of the dentition, Keloids, Multiple unerupted teeth, Odontoma, Lipoma, Supernumerary ...	ORPHA:79665
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Micrognathia, Congenital diaphragmatic hernia, Everted lo...	OMIM:601803
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Neonatal death, Stillbirt...	OMIM:608978
Autoinflammatory Disease, Systemic, With Vasculitis	Atopic dermatitis, Failure to thrive, Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:620376
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Pancreati...	ORPHA:733
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Downturned corners of mouth, Cleft soft palate, Leukocytosis, Genu valgum, Smoo...	OMIM:619321
Genitopatellar Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Delayed eruption of teeth, Inferior pub...	OMIM:606170
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Charge Syndrome	Bifid femur, Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Horses...	ORPHA:138
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru...	OMIM:620568
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia...	ORPHA:90794
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina	OMIM:146255
Myhre Syndrome	Camptodactyly, Laryngotracheal stenosis, Skeletal muscle hypertrophy, Generalized muscle hypertrophy	OMIM:139210
Restrictive Dermopathy	Osteopenia, Natal tooth, Arthrogryposis multiplex congenita, Camptodactyly of finger, Temporomand...	ORPHA:1662
Blau Syndrome	Nephropathy, Posterior uveitis, Keratitis, Limitation of joint mobility, Camptodactyly of finger,...	ORPHA:90340
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia	ORPHA:2526
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,...	OMIM:150400
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Dorsocervical fat pad, Leukocytosis, Increased bod...	ORPHA:96253
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:564
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Tracheoesophageal fistula, Ectopic kidney, Congenital diaphragmatic hernia	ORPHA:268249
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Grade III vesicoureteral reflux, Urethral stricture, Chordee, Broad toe, Urinary i...	OMIM:619522
Sotos Syndrome	Hip contracture, Talipes equinovarus, Abnormality of the kidney, Large hands, Acute lymphoblastic...	ORPHA:821
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Multiple bladder diverticula, Peripheral pulmonary artery stenosis...	OMIM:613177
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Branchial cyst, Clinodactyl...	OMIM:620186
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Sarcoidosis	Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Renal insufficiency, E...	ORPHA:797
Bardet-Biedl Syndrome	Irregular menstruation, Hepatic fibrosis, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hyp...	ORPHA:110
Iniencephaly	Rhizomelia, Renal agenesis, Narrow mouth, Congenital diaphragmatic hernia, Talipes equinovarus, O...	ORPHA:63259
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Pearson Syndrome	Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm...	ORPHA:699
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Pfeiffer Syndrome	Bronchomalacia, Tracheal cartilaginous sleeve	OMIM:101600
Holoprosencephaly 9	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Microsporidiosis	Pneumonia, Nephritis, Bronchiolitis, Bronchitis, Abnormal tracheal morphology, Urethritis, Myositis	ORPHA:2552
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Cardiac-Urogenital Syndrome	Accessory spleen, Tracheomalacia, Congenital diaphragmatic hernia, 2-3 toe syndactyly, Penoscrota...	OMIM:618280
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Micrognathia, Hypoplastic pelvis, Congenital diaphragmatic herni...	OMIM:273395
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Tracheal calcification, Emphys...	OMIM:245150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Mowat-Wilson Syndrome	Tooth malposition, Delayed eruption of teeth, Widely spaced teeth, Recurrent otitis media, Submuc...	OMIM:235730
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Peters Plus Syndrome	Congenital hypothyroidism, Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopi...	ORPHA:709
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Charge Syndrome	Unilateral microphthalmos, Anophthalmia, Microphthalmia	OMIM:214800
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Branchiooculofacial Syndrome	Anophthalmia, Microphthalmia	OMIM:113620
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Glomuvenous Malformation	Abnormal tracheal morphology	ORPHA:83454
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A...	ORPHA:322
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Anophthalmia, Microphthalmia	OMIM:309800
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency	OMIM:130050
Wolf-Hirschhorn Syndrome	Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism	OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias	OMIM:276820
Townes-Brocks Syndrome 1	Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa...	OMIM:107480
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism	OMIM:256520
Okamoto Syndrome	Bifid uterus	ORPHA:2729
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias	ORPHA:286
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Ear - MPATH pathological process term otitis media	Notum^em1(IMPC)Tcp	HOM	Early adult
Ear - MPATH pathological process term inflammation	Notum^em1(IMPC)Tcp	HOM	Early adult
Tooth - MPATH pathological process term developmental dysplasia	Notum^em1(IMPC)Tcp	HOM	Early adult
Kidney - MPATH pathological process term aplasia	Notum^em1(IMPC)Tcp	HOM	Early adult

IMPC related publications

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

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Notum Deletion From Late-Stage Skeletal Cells Increases Cortical Bone Formation and Potentiates Skeletal Effects of Sclerostin Inhibition.	Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (July 2021)	Notum^{tm1a(EUCOMM)Wtsi}	PMC8688238

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Notum^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Notum^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Notum^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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