Gene Summary

Name:
notum palmitoleoyl-protein carboxylesterase
Synonyms:
5730593N15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Notumem1(IMPC)Tcp HOM   Early adult 0.00
small spleen Notumem1(IMPC)Tcp HET Late adult 0.00
decreased exploration in new environment Notumem1(IMPC)Tcp HET Early adult 1.49×10-08
abnormal kidney morphology Notumem1(IMPC)Tcp HOM Early adult 0.00
abnormal uterus morphology Notumem1(IMPC)Tcp HET Early adult 0.00
small uterus Notumem1(IMPC)Tcp HET Late adult 0.00
abnormal brain morphology Notumem1(IMPC)Tcp HOM Early adult 0.00
cataract Notumem1(IMPC)Tcp HET   Late adult 2.36×10-07
small ovary Notumem1(IMPC)Tcp HET Late adult 0.00
decreased grip strength Notumem1(IMPC)Tcp HET Late adult 4.86×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

157 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

Images Slit Lamp

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

12 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

20 Images

Gross Pathology and Tissue Collection

Images

11 Images

Gross Morphology Embryo E18.5

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Histopathology

Images

3 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Tracheobronchmegaly, Bronchitis, Tracheal stenosis, Pneumo... ORPHA:3347
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
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
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Osteomesopyknosis
Increased bone mineral density OMIM:166450
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
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Tracheal Agenesis
Tracheal atresia, Aplasia/Hypoplasia of the lungs ORPHA:3346
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... ORPHA:49042
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Hypomature ... ORPHA:88661
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Increased bone mineral density, Microdontia OMIM:190320
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short f... ORPHA:166277
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Cone-shaped epiphysis, Delayed eruption of teeth, Oste... ORPHA:71267
Tracheobronchopathia Osteochondroplastica
Abnormal tracheobronchial morphology, Calcification of cartilage, Bronchitis, Tracheal stenosis, ... ORPHA:3348
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Slender long bone, ... OMIM:619795
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Osteogenesis Imperfecta, Type V
Recurrent fractures, Dentinogenesis imperfecta, Limited pronation/supination of forearm, Anterior... OMIM:610967
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... OMIM:184260
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Clinodactyly of the 5th finger, Carious teeth ORPHA:1094
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Intermediate Osteopetrosis
Dental malocclusion, Cortical sclerosis, Osteomyelitis, Recurrent fractures, Osteosclerosis of th... ORPHA:210110
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Limited elbow exten... OMIM:604922
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Micromelia, Delayed eruption of t... ORPHA:166272
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... ORPHA:1515
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Hypocalciuria, Genu valgum, Abnormal epiphysis... ORPHA:89936
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Short lower lim... OMIM:259440
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Otitis media with effusion... ORPHA:2791
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly, Micro... ORPHA:3352
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Isolated Osteopoikilosis
Discoid lupus rash, Abnormality of femur morphology, Cleft palate, Abnormally ossified vertebrae,... ORPHA:166119
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Carious teeth, Increased bone dens... OMIM:136300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Shor... ORPHA:53
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Tracheal stenosis ORPHA:93941
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Diaphyseal thicke... ORPHA:1802
Endosteal Hyperostosis, Worth Type
Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Diaphyseal thickening, Mandibu... ORPHA:2790
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... OMIM:619269
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... OMIM:265900
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Coxa vara, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Cranio... OMIM:259700
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
48,Xxyy Syndrome
Taurodontia, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Inguinal hernia, ... ORPHA:10
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Ca... ORPHA:2501
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Dentinogenesis imperfecta, Micrognathia, Decreased calvarial ... OMIM:259420
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... ORPHA:63442
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph... OMIM:259710
Hall-Riggs Mental Retardation Syndrome
Failure to thrive, U-Shaped upper lip vermilion, Metaphyseal dysplasia, Hypoplasia of the primary... OMIM:234250
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Hypoplasia of penis OMIM:601427
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Trichodental Dysplasia
Conical tooth, Hypodontia, Odontodysplasia OMIM:601453
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Short toe, Hypodontia, Inguinal hernia, Everted low... OMIM:225410
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Osteogenesis Imperfecta, Type Xi
Coxa vara, Dentinogenesis imperfecta, Abnormality of the dentition, Osteopenia, Protrusio acetabu... OMIM:610968
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Abnormal cortical bone morphology, Thin upper lip vermilion, Vesicoure... ORPHA:2512
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Pendred Syndrome
Tracheal stenosis, Nephropathy ORPHA:705
Osteoporosis
Osteoporosis OMIM:166710
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Small for gestational age, Renal agenesis, Abnormal hip bone morphology, Upper limb... ORPHA:294975
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hepatomegaly, Splenomegaly, Retrognathia, Unilateral renal agenesis, Postaxial... OMIM:614576
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Atrophic scars, Gastrointestinal inflamm... ORPHA:79405
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Pseudopseudohypoparathyroidism
Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Obesity, Short metatar... OMIM:612463
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Keutel Syndrome
Tracheal atresia, Recurrent sinusitis, Calcification of cartilage, Pulmonary artery stenosis, Rec... ORPHA:85202
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion OMIM:301200
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Taurodontia, Thin vermilion border, Cutaneous finger syndactyly, ... OMIM:614378
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia OMIM:226650
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness ORPHA:2871
Osteogenesis Imperfecta, Type X
Nephrolithiasis, Dentinogenesis imperfecta, Malar flattening, Inguinal hernia, Generalized joint ... OMIM:613848
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Recur... OMIM:613680
48,Xxxy Syndrome
Taurodontia, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Inguinal hernia, ... ORPHA:96263
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
48,Xyyy Syndrome
High palate, Dislocated radial head, Irregularly spaced teeth, Long philtrum, Abnormal renal morp... ORPHA:99329
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Overlapping toe, Velopharyngeal insufficiency, Mi... ORPHA:363444
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Femoral bowing pres... OMIM:166220
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Microdontia, Abnormal proportion of naive CD4 T cells, Abnormal femoral head morpho... ORPHA:1830
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Short proximal phalanx of hallux, S... OMIM:251190
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Atrophic scars, Anemia, Scarring alopecia of scalp ORPHA:79402
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Keratitis, Urethral stricture, Increased connective tissue, Carious teeth, Enamel hypoplasia, Pun... OMIM:226670
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Inguinal hernia, Thin vermilion ... OMIM:608572
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Flexion contracture, Generalized hypoplasia of dental enamel, Carious teeth, Cutaneous finger syn... OMIM:203550
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Short metacarpal, I... OMIM:610915
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Abnormal bone ossificat... ORPHA:2563
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Taurodontia, Increased renal tubular phosphate reabs... OMIM:211900
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia, Coronal craniosynostosis, Osteopenia, ... OMIM:616294
Epidermolysis Bullosa, Junctional 1B, Severe
Failure to thrive, Syndactyly, Carious teeth, Enamel hypoplasia, Atrophic scars OMIM:226700
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Micropenis, Retrognathia, Micrognathia, Unilateral renal agenesis, ... OMIM:618142
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Dislocated ... OMIM:101800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, ... OMIM:264700
Hypophosphatemic Rickets
Periapical tooth abscess, Abnormality of the dentition, Craniofacial asymmetry, Hypocalciuria, En... ORPHA:437
Hurler-Scheie Syndrome
Contracture of the distal interphalangeal joint of the fingers, Camptodactyly of finger, Heparan ... OMIM:607015
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Premature Ovarian Failure 6
Hypoplasia of the uterus, Female infertility, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Anemia of inadequate production, Hepatomegaly, Skin rash, Calvarial hyperostos... OMIM:612714
Aniridia 3
Cataract OMIM:617142
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... OMIM:601668
Majeed Syndrome
Hepatomegaly, Proteinuria, Acne, Weight loss, Metaphyseal irregularity, Osteomyelitis, Inflammato... ORPHA:77297
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Malar flattening, Micrognathia, Flared metaphysis, Microme... OMIM:215045
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79406
Smith-Magenis Syndrome
Cleft upper lip, Joint stiffness, Taurodontia, Renal hypoplasia/aplasia, Clinodactyly of the 5th ... ORPHA:819
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Enamel hypoplasia, Focal segmental glomerul... OMIM:618349
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Slender build, Sclerosis of skull base, Cortical thickening ... OMIM:131300
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Brittle Cornea Syndrome 1
Atypical scarring of skin, Congenital hip dislocation, Dentinogenesis imperfecta, Joint laxity OMIM:229200
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Craniosynostosis, Macroscopic hematuria, Membrano... ORPHA:251004
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Eczematoid dermatitis, Persistence of primary teeth, Skin rash,... OMIM:147060
49,Xxxxy Syndrome
Taurodontia, Renal hypoplasia/aplasia, Hypoplasia of penis, Cleft palate, Open bite, Clinodactyly... ORPHA:96264
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... OMIM:618363
Osteogenesis Imperfecta, Type I
Recurrent fractures, Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Increased susceptibil... OMIM:166200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... OMIM:614841
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... OMIM:619489
Tracheobronchomegaly
Bronchiectasis, Diverticulosis of trachea, Recurrent bronchopulmonary infections, Death in infancy OMIM:275300
Emanuel Syndrome
High palate, Multiple joint contractures, Failure to thrive, Congenital diaphragmatic hernia, Ing... ORPHA:96170
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Recurrent respiratory infections, Death in infancy, Abnormal tracheobronchial ... ORPHA:1790
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Abnormal metaphysis ... ORPHA:1306
Dysosteosclerosis
Abnormal dental enamel morphology, Recurrent fractures, Increased bone mineral density, Delayed e... ORPHA:1782
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Mandibular prognathia, Cra... OMIM:122860
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Lethal Recessive Chondrodysplasia
Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo... ORPHA:1423
Fraser Syndrome 3
Tracheal atresia, Abnormal lung lobation OMIM:617667
Nager Syndrome
Wide mouth, Joint stiffness, Cleft palate, Unilateral renal agenesis, Micrognathia, Hypoplasia of... ORPHA:245
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Ck Syndrome
Slender build, High palate, Malar flattening, Retrognathia, Micrognathia, Abnormal digit morpholo... OMIM:300831
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria OMIM:202900
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, ... OMIM:277440
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth, Osteoporosi... OMIM:613849
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Williams-Beuren Region Duplication Syndrome
High palate, Unilateral renal agenesis, Micrognathia, Short philtrum, Diastema, Chronic otitis me... OMIM:609757
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Ramon Syndrome
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysis, A... ORPHA:3019
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Malar flattening, O... OMIM:614727
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma... ORPHA:2325
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Congenital hip dislocation, Delayed eruption of teeth, O... OMIM:614450
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Microgna... OMIM:265800
Braddock Syndrome
Unilateral renal agenesis, Failure to thrive, Micrognathia, Preaxial hand polydactyly ORPHA:52047
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Specific Granule Deficiency 2
Failure to thrive, Recurrent otitis media, Tooth malposition, Osteopenia, Brachydactyly, Thromboc... OMIM:617475
Vacterl/Vater Association
Hypoplasia of penis, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hypospadias, Abn... ORPHA:887
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
2-3 toe syndactyly, Micropenis, Unilateral renal agenesis, Micrognathia, Camptodactyly of finger,... OMIM:619951
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Enamel hypoplasia, Downturned corners of mouth, Abnormal epiphysis morphology, Neu... ORPHA:2643
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis, Thick vermilion border, Carious teeth ORPHA:363523
Chopra-Amiel-Gordon Syndrome
Cleft palate, Unilateral renal agenesis, Short philtrum, Cleft lip, Joint hypermobility, Pierre-R... OMIM:619504
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... OMIM:240950
Familial Expansile Osteolysis
Hydroxyprolinuria, Premature loss of teeth, Fragile teeth, Pathologic fracture, Thin bony cortex,... OMIM:174810
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Decreased body weight, Increased bone mineral density, Thin vermilion bor... OMIM:614856
Takenouchi-Kosaki Syndrome
Wide mouth, Dental malocclusion, Overlapping toe, Inguinal hernia, Unilateral renal agenesis, Hyp... OMIM:616737
Inverted Duplicated Chromosome 15 Syndrome
High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral ... ORPHA:3306
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Multicystic kidney dysplasia, Abnormal lung l... ORPHA:3301
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Syndactyly, Cardiomegaly OMIM:613576
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Long philtrum, Delayed eruption of ... OMIM:157980
Dysostosis, Stanescu Type
Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti... ORPHA:1798
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Cleft palate, Unilateral renal agenesis, Micrognathia, Renal agenesis, Ectopic k... OMIM:601076
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Progressiv... OMIM:224300
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Laron Syndrome
Short toe, Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Brachydactyly, Micr... ORPHA:633
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Hepatomegaly, Splenomegaly, Cachexia, Abnor... ORPHA:1133
Pseudohypoparathyroidism, Type Ia
Short toe, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Short finge... OMIM:103580
Branchioskeletogenital Syndrome
Craniosynostosis, Abnormality of the dentition, Short philtrum, Bladder exstrophy, Carious teeth,... ORPHA:1299
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Enamel hypoplasi... ORPHA:94089
Oligomeganephronia
Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Small for gestational age,... ORPHA:2260
Mulibrey Nanism
Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Thickened cortex of long bones, En... OMIM:253250
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Renal hypoplasia/aplasia, Midshaft hypospadias, Micrognathia, Campto... ORPHA:2863
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias, Delayed eruption of teeth, Shagree... ORPHA:1816
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Malar flattening, Abnormal dental enamel morphology, Thin vermilion border ORPHA:139474
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology, Cari... OMIM:204700
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Obesity, Short metatar... OMIM:612462
Diastrophic Dysplasia
Joint stiffness, Increased bone mineral density, Cleft palate, Micrognathia, Camptodactyly of fin... ORPHA:628
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Malar flattening, Brachydactyly, Enamel hypoplasia, Sandal gap, Mandibular prognathia OMIM:600991
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Renal phosphate wasting, ... ORPHA:289176
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... ORPHA:1077
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone re... ORPHA:289157
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger, Cleft palate OMIM:601355
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Growth Hormone Insensitivity Syndrome
Failure to thrive, Hypoplasia of penis, Everted lower lip vermilion, Delayed eruption of teeth, T... ORPHA:181393
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Joint stiffness, Clinodactyly of the 5t... ORPHA:137834
Osteogenesis Imperfecta
Abnormality of femur morphology, Abnormality of the dentition, Osteopenia, Femoral bowing, Microm... ORPHA:666
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Multicystic kidney dysplasia, Radioulnar synostosis, Carious teeth,... ORPHA:3270
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Megaloblastic anemia, Cleft palate, Skin rash, Unilateral renal agenesis, Meth... ORPHA:79284
Catifa Syndrome
Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt... OMIM:618761
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Decreased ... OMIM:600002
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis ORPHA:2026
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Open mouth, Broad ... OMIM:616362
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Coxa valga, Increased bone mineral density, Malar flattening, Micrognathia, Osteopen... ORPHA:85184
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... OMIM:619980
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopa... ORPHA:375
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Granulomatosis With Polyangiitis
Hemosiderin-laden macrophages in bronchoalveolar fluid, Pleuritis, Tracheal stenosis, Localized p... OMIM:608710
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormal femoral neck/head morphology, Abnormal bone ossification, Increased bone mi... ORPHA:163649
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto... ORPHA:536467
Bone Marrow Failure Syndrome 3
Failure to thrive, Metaphyseal dysplasia, Hypodontia, Reduced bone mineral density, Micrognathia,... OMIM:617052
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Agenesis of molar, Supernumerary tooth, Micropenis, Osteopenia, Hypospadias, Diastema, Microdonti... OMIM:619718
Geleophysic Dysplasia 3
Tracheal stenosis, Pneumonia OMIM:617809
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Premature loss of teeth, Failure to thrive, Recurrent fractures, Increased uri... OMIM:239000
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Joint c... OMIM:612350
Hypophosphatasia, Childhood
Bowing of the legs, Craniosynostosis, Premature loss of primary teeth, Phosphoethanolaminuria, Ca... OMIM:241510
Weismann-Netter Syndrome
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent tee... OMIM:112350
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Cleft palate, Micropenis, Unilateral renal agenesis, Finger joint hypermobility OMIM:244200
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita OMIM:217150
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, 3-4 toe syndactyly, Taurodontia, Cleft palate, Microdon... OMIM:164200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Osteopenia, Gout, Carious teeth, Enlarged kidney, Proteinuria, Stage ... ORPHA:79259
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Patent ductus arteriosu... OMIM:618845
Caffey Disease
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... OMIM:114000
Brachydactyly, Type E2
Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal OMIM:613382
Gorham-Stout Disease
Mandibular pain, Abnormality of femur morphology, Abnormal bone ossification, Osteomyelitis, Abno... ORPHA:73
Oculodentodigital Dysplasia
Cleft palate, Carious teeth, Umbilical hernia, Abnormal metaphysis morphology, Mandibular prognat... ORPHA:2710
Osteoglosphonic Dysplasia
Tooth agenesis, Abnormal bone ossification, Inguinal hernia, Craniosynostosis, Micrognathia, Brac... ORPHA:2645
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Tooth malposition, Inguinal hernia, Micropenis, Unilateral renal agenesis, Truncal o... OMIM:616541
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Neutropenia, Persistence of primary teeth, Supernumerary tooth, Lymphopenia, Recurre... OMIM:619752
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Localized Junctional Epidermolysis Bullosa
Mitten deformity, Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarrin... ORPHA:251393
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness OMIM:261560
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Proteus Syndrome
Lipoma, Calvarial hyperostosis, Splenomegaly, Multiple lipomas, Thin bony cortex, Open mouth, Man... OMIM:176920
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Broad finger, Short phalanx of finger, Sup... OMIM:302350
12Q14 Microdeletion Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Hypodontia, Thin vermilion border, Micrognathi... ORPHA:94063
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Downturned corners of mouth, Micrognathia, Unilateral renal agenesis, Craniosynostosis ORPHA:1064
Filippi Syndrome
Decreased body weight, Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... OMIM:272440
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Retrognathia... ORPHA:2780
Branchiootorenal Syndrome 1
High palate, Cleft palate, Unilateral renal agenesis, Abnormal renal collecting system morphology... OMIM:113650
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Genu valgu... OMIM:300602
Raine Syndrome
High palate, Wide mouth, Cleft palate, Micromelia, Microdontia, Bowing of the long bones, Subperi... OMIM:259775
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Premature loss of primary teeth, Osteomalacia, Premature ... OMIM:146300
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism ORPHA:1875
Eec Syndrome
Keratitis, Cleft palate, Microdontia, Carious teeth, Inflammatory abnormality of the eye, Blephar... ORPHA:1896
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Retrognathia, Abnormality of the dentition, Oligodontia, Short 5th finger,... ORPHA:557003
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Hematuria, Carious teeth, Gen... ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... OMIM:210720
Otopalatodigital Syndrome Type 2
Cleft palate, Ureteral obstruction, Omphalocele, Bowing of the long bones, Carpal synostosis, Inc... ORPHA:90652
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Seckel Syndrome 1
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyl... OMIM:210600
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis, Extramedullary hematopoiesis, Hepatospl... OMIM:259730
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Broad ha... OMIM:154400
Grant Syndrome
Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibility, Abnormal pelvi... ORPHA:2097
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Arthritis, A... ORPHA:37748
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Macrodontia, Bifid... OMIM:263540
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Trichomegaly
Cataract OMIM:190330
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Clinodactyly OMIM:618506
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Short distal phalanx of the thumb, Chronic oral candidiasis, Abnormal T cell subset distribution,... ORPHA:221139
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Failure to thrive, Dental malocclusion, Taurodontia, Macrodontia of pe... ORPHA:444072
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Enamel hypoplasia, Widely spaced teeth, 4-5 toe syndactyly, Conical... OMIM:613573
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Wide mouth, Dental malocclusion, Clinodactyly of the 5th finger, ... OMIM:619293
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Hypodontia, Flexion contracture... OMIM:612079
Cleidocranial Dysplasia 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Absent frontal sin... OMIM:119600
7Q11.23 Microduplication Syndrome
High palate, Craniosynostosis, Short philtrum, Tracheomalacia, Retrognathia, Micrognathia, Unilat... ORPHA:96121
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Tracheal stenosis, Tracheomalacia OMIM:217980
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Wide mouth, Short philtrum, Tapered finger, Tented upper lip vermilion, Flexion contracture, Unil... ORPHA:487796
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Ulnar deviation of the hand, Malar flattening, Cleft palate, Micropenis, Microgn... OMIM:612651
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Tracheal calcification, Hydronephrosis OMIM:302960
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... ORPHA:2919
Brachydactyly, Type B1
Joint contracture of the hand, Micropenis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypop... OMIM:113000
Brachytelephalangic Chondrodysplasia Punctata
Tracheal stenosis, Abnormal bronchus morphology, Pulmonary artery stenosis, Tracheal calcificatio... ORPHA:79345
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Primary Hyperoxaluria
Failure to thrive, Recurrent fractures, Chronic kidney disease, Abnormality of the dentition, Cal... ORPHA:416
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Gaucher Disease Type 1
Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopeni... ORPHA:77259
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Genu valgu... OMIM:300431
Hall-Riggs Syndrome
Failure to thrive, Wide mouth, Joint stiffness, Brachydactyly, Delayed eruption of teeth, Downtur... ORPHA:2107
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Blepharitis, Folliculitis, Carious teeth, Enamel hypoplasia, Scarring alopecia of scal... OMIM:612843
Epidermolysis Bullosa, Junctional 4, Intermediate
Scarring alopecia of scalp, Dental enamel pits, Carious teeth OMIM:619787
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... OMIM:618342
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Syndactyly, Carious ... OMIM:613684
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Enlarged kidney, Proteinuria, Nephrotic syndrome, Flexion contracture, Splenomegaly... OMIM:617303
Craniometadiaphyseal Dysplasia
High palate, Sclerosis of skull base, Broad long bones, Malar flattening, Osteopenia, Flared meta... OMIM:269300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic pelvis, Umbilical hernia, Aplasia of the distal phalanx o... OMIM:308050
Hamamy Syndrome
High palate, Wide mouth, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger, Cl... OMIM:611174
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density ORPHA:970
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Abnormal bronchus morphology ORPHA:93352
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Cleft palate, Unilateral renal agenesis, Abnormality of the kidn... OMIM:118100
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Dyskeratosis Congenita
Recurrent fractures, Periodontitis, Taurodontia, Blepharitis, Hypodontia, Hepatomegaly, Splenomeg... ORPHA:1775
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Man... ORPHA:2658
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... ORPHA:93101
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Hyperextensibility of the finger joints, Congenital hip dislocat... OMIM:619797
Potocki-Shaffer Syndrome
Micropenis, Micrognathia, Short philtrum, Nephroblastoma, Downturned corners of mouth, Anemia, De... ORPHA:52022
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Multiple... OMIM:273050
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate OMIM:216300
Rothmund-Thomson Syndrome
Abnormality of the dentition, Osteopenia, Aplastic anemia, Microdontia, Delayed eruption of teeth... ORPHA:2909
Hydrolethalus
Tracheal atresia ORPHA:2189
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Failure to thrive, Anodontia, Dental malocclusion, Narrow palate, Supernumerary toot... OMIM:264475
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Medullary nephrocalcinosis, Genu varum, Carious teeth, Genu valgum, Hyp... OMIM:613312
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... OMIM:170390
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Hypospadias, Oligodo... OMIM:619184
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Cellulitis, Otitis media, Skin rash, Abnormal lymphocyte morphology... ORPHA:229717
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Thin vermilion border, Micrognathia, Osteopenia, Brachydactyly, Delayed eruption of ... OMIM:601812
Cockayne Syndrome Type 2
Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Conjunctivitis, Flexion ... ORPHA:90322
Diaphanospondylodysostosis
Talipes equinovarus, Cleft palate, Inguinal hernia, Tracheomalacia, Micrognathia, Nephrogenic res... OMIM:608022
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Taurodontia, Abnormality of the dentition, Camptodactyly of finger, Large hands, Abnormal dental ... ORPHA:3220
Osteopetrosis, Autosomal Recessive 5
Gingival overgrowth, Stillbirth, Hepatomegaly, Increased bone mineral density, Decreased osteocla... OMIM:259720
Kallmann Syndrome With Spastic Paraplegia
High palate, Unilateral renal agenesis, Eunuchoid habitus, Micropenis OMIM:308750
Desmosterolosis
Failure to thrive, Narrow mouth, Renal hypoplasia/aplasia, Increased bone mineral density, Cleft ... ORPHA:35107
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Clinodactyl... OMIM:616202
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia, Abnormality of the gingiva ORPHA:517
Beemer-Ertbruggen Syndrome
Micrognathia, Thrombocytopenia, Increased bone mineral density, Deep philtrum ORPHA:1237
Cutis Laxa, Autosomal Dominant 3
Talipes equinovarus, Adducted thumb, Unilateral renal agenesis, Osteopenia, Hernia, Hip dislocation OMIM:616603
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Wide mouth, Hepatomegaly, Aminoaciduria, Flexion contracture, Retrognathia, Mi... OMIM:604273
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Narrow palate, Flat capital femoral epiphysis, Cone-shaped epiphyses of the ... OMIM:190350
Coach Syndrome 1
Wide mouth, Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Postaxial ha... OMIM:216360
Myoectodermal Gonadal Dysgenesis Syndrome
Hypodontia, Small for gestational age, Thin vermilion border, Unilateral renal agenesis, Bifid di... OMIM:618419
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Cleft palate, Cellulitis, Craniosynostosis, Abnormality of th... ORPHA:2314
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping... ORPHA:952
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Increased bone mineral density, Ectopic ossification, Brachydactyly, Dela... ORPHA:79444
Celiac Disease, Susceptibility To, 1
Failure to thrive, Thyroiditis, Eczema, Osteoporosis, Macrocytic anemia, Enamel hypoplasia, Stoma... OMIM:212750
Metatropic Dysplasia
Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the... ORPHA:2635
Orofaciodigital Syndrome Vi
High palate, Failure to thrive, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydact... OMIM:277170
Mucolipidosis Ii Alpha/Beta
Wide mouth, Hepatomegaly, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Enla... OMIM:252500
Diastrophic Dysplasia
Costal cartilage calcification, Hip contracture, Laryngotracheal stenosis OMIM:222600
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Narrow mouth, Microretrognathia, Severe failure to thrive, Craniosyn... ORPHA:468631
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Nail-Patella Syndrome
Abnormality of femur morphology, Proximal finger joint hyperextensibility, Limited pronation/supi... ORPHA:2614
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Tracheal stenosis, Recurrent respiratory infections ORPHA:2637
Eem Syndrome
Ectrodactyly, Finger syndactyly, Microdontia, Carious teeth, Widely spaced teeth, Abnormality of ... ORPHA:1897
H Syndrome
Cleft upper lip, Recurrent fractures, Gingival overgrowth, Histiocytosis, Micropenis, Abnormality... ORPHA:168569
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Cleft palate, Inguinal hernia, Unilateral renal agenesis, Multicystic kidney dysplasia... OMIM:308205
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-shaped distal ... OMIM:218400
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Congenital Disorder Of Glycosylation, Type Iig
High palate, Talipes equinovarus, Cleft palate, Small hand, Micrognathia, Osteopenia, Hypospadias... OMIM:611209
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Atopic dermatitis, Congenital hip dislocation, Limited elbow extension, Inci... OMIM:619719
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te... ORPHA:1328
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, Ab... ORPHA:436
X-Linked Non-Syndromic Intellectual Disability
2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Small for gestational age,... ORPHA:777
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Cleft palate, Craniosynostosis, Large for gestational age, Hypoplasia of the maxilla... OMIM:213980
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Triphalangeal thumb OMIM:256690
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth ORPHA:3214
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Malar flattening, Craniosynostosis, Thin vermilion border, Micrognathia, Micropenis, Renal agenes... ORPHA:171839
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... OMIM:601957
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Thin vermilion border,... ORPHA:1046
Teebi Hypertelorism Syndrome 2
High palate, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Hypospadi... OMIM:619736
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Abnormality of the urinary system, Urethral stricture, Carious teeth, Atro... ORPHA:79409
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Anemia, Palmoplantar pustulosis, Inflammation of the large intestine, A... ORPHA:324964
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Sagittal craniosynostosis, G... OMIM:201000
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia OMIM:300636
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Failure to thrive, Malar flattening, Adducted thumb, Hypospadias, Enamel hypoplasia,... OMIM:618874
Tetrasomy 12P
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Cachexia... ORPHA:884
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Talipes equinovarus, Macroglossia, Long philtrum, Delayed eruption ... OMIM:616354
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Oligodon... OMIM:618727
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... OMIM:226600
X-Linked Hypohidrotic Ectodermal Dysplasia
Short distal phalanx of finger, Everted lower lip vermilion, Delayed eruption of teeth, Microdont... ORPHA:181
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Oculodentodigital Dysplasia, Autosomal Recessive
Failure to thrive, Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central ... OMIM:257850
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Unilateral renal agenesis, Renal agenesis, Fused cervical vertebrae, Submucous clef... OMIM:619227
Chromosome 17Q12 Deletion Syndrome
High palate, Hypoplasia of the bladder, Upper limb undergrowth, Mandibular prognathia, Stage 5 ch... OMIM:614527
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Premature osteoarthritis, Knee osteoarthrit... ORPHA:93284
Osteopetrosis, Autosomal Dominant 3
Premature loss of teeth, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Gingivitis,... OMIM:618107
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Everted lower lip vermilion, Advanced eruption of teeth, Delayed eruption of teet... ORPHA:1028
Schwartz-Jampel Syndrome