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
anophthalmia Notumem1(IMPC)Tcp HOM E18.5 0.00
abnormal uterus morphology Notumem1(IMPC)Tcp HET Early adult 0.00
decreased grip strength Notumem1(IMPC)Tcp HET Late adult 4.85×10-05
small ovary Notumem1(IMPC)Tcp HET Late adult 0.00
abnormal brain morphology Notumem1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Notumem1(IMPC)Tcp HET Early adult 1.49×10-08
abnormal cholesterol homeostasis Notumem1(IMPC)Tcp HET   Early adult 7.03×10-05
abnormal kidney morphology Notumem1(IMPC)Tcp HOM Early adult 0.00
small uterus Notumem1(IMPC)Tcp HET Late adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

157 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

20 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Histopathology

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Gross Pathology and Tissue Collection

Images

12 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

12 Images

Gross Morphology Embryo E18.5

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Mounier-Kühn Syndrome
Bronchitis, Tracheobronchmegaly, Recurrent bronchopulmonary infections, Pneumonia, Recurrent resp... ORPHA:3347
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Tracheal atresia 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
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele... ORPHA:49042
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Tracheobronchopathia Osteochondroplastica
Abnormal tracheobronchial morphology, Atelectasis, Abnormal bronchus morphology, Bronchitis, Calc... ORPHA:3348
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Trichodentoosseous Syndrome
Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia OMIM:190320
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Osteoporosis, Dentinogenesis imperfecta, Cone-shaped e... 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
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten... OMIM:610967
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hypermobili... OMIM:301014
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang... OMIM:613849
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:184260
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Anonychia-Microcephaly Syndrome
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition ORPHA:1094
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Abnormality... ORPHA:210110
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi... ORPHA:166272
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, Wide distal fem... OMIM:614856
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Multiple prenatal fractures, Short lower limbs, Dentinogenesis ... OMIM:259440
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Jung Syndrome
Recurrent respiratory infections, Tracheal stenosis ORPHA:2321
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... ORPHA:3352
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Increased bone dens... OMIM:136300
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Delayed eruption of teeth, Ma... OMIM:265900
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Tracheal stenosis ORPHA:93941
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Abnormal femur morphology, Discoid lupu... ORPHA:166119
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Short long bone, Tooth agenesis, Joint hypermobility, Coxa valga, Inguinal hernia, Small epiphyse... OMIM:618363
48,Xxyy Syndrome
Chronic otitis media, Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulde... ORPHA:10
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Arthritis, R... ORPHA:53
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of... OMIM:619269
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Tracheal stenosis OMIM:601427
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Anemia, Flared metaphysis,... OMIM:259700
Keutel Syndrome
Pulmonary artery stenosis, Recurrent sinusitis, Calcification of cartilage, Tracheal atresia, Rec... ORPHA:85202
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Abnormality of the dentition, Bowin... ORPHA:2501
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Osteogenesis Imperfecta, Type Iii
Slender long bone, Tibial bowing, Decreased calvarial ossification, Multiple prenatal fractures, ... OMIM:259420
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Osteopo... OMIM:234250
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility, Delayed eruption of teeth, Short middle phalanx of the 5... ORPHA:63442
Osteogenesis Imperfecta, Type Vi
Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Bowing of the leg... OMIM:613982
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, An... OMIM:259710
Pendred Syndrome
Nephropathy, Tracheal stenosis ORPHA:705
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Inguinal hernia, Tibial bowing, Nephrolithia... OMIM:613848
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Microdontia, Coronal craniosynostosis, Micrognathia, De... OMIM:112240
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... ORPHA:85188
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux, Abnormal cortical bone morphology, Thin upper l... ORPHA:2512
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Broad jaw ORPHA:178377
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Anemia, Scarring alopecia of scalp, Punctate keratitis, Enamel hypoplasia, Carious teeth, Keratit... OMIM:226670
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Renal agenesis, Cleft palate, Upper limb p... ORPHA:294975
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Osteoporosis
Osteoporosis OMIM:166710
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Atrophic scars, Enamel hypoplasia, Carious teeth, Oral mucosal bli... ORPHA:79405
Taurodontism
Taurodontia OMIM:272700
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Cranioectodermal Dysplasia 4
Thin vermilion border, Broad distal phalanx of finger, Broad phalanx of the toes, Cutaneous finge... OMIM:614378
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Pseudopseudohypoparathyroidism
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, O... OMIM:612463
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Hepatomegaly, Unilateral renal agenesis, Patent ductus arteriosus, Pancytopenia, Pr... OMIM:614576
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Unilateral renal agenesis, Short philtrum, High palate, Failure to thrive, ... OMIM:609757
48,Xyyy Syndrome
Thick lower lip vermilion, Dislocated radial head, Abnormal renal morphology, High palate, Enamel... ORPHA:99329
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Chondritis, Abno... ORPHA:564003
Osteogenesis Imperfecta, Type Xi
Osteopenia, Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Recur... OMIM:610968
48,Xxxy Syndrome
Chronic otitis media, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth,... ORPHA:96263
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters OMIM:226650
Schimke Immuno-Osseous Dysplasia
Abnormal femoral head morphology, Microdontia, Hypoplastic pelvis, Lymphopenia, Stage 5 chronic k... ORPHA:1830
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia ORPHA:2871
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Tracheobronchomegaly
Bronchiectasis, Diverticulosis of trachea, Recurrent bronchopulmonary infections, Death in infancy OMIM:275300
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Dentinoge... OMIM:166220
Emanuel Syndrome
Congenital diaphragmatic hernia, Chronic oral candidiasis, Recurrent otitis media, Unilateral ren... OMIM:609029
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, High palate, Coronal craniosynostosis... OMIM:616294
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Carious teeth, Velopharyngeal insu... OMIM:613680
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Hurler-Scheie Syndrome
Dermatan sulfate excretion in urine, Camptodactyly of finger, Thenar muscle atrophy, Contracture ... OMIM:607015
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ... ORPHA:2972
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Thin lower lip v... ORPHA:363444
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Short middle phalanx of the 5th finger, Carious teeth, Cutaneous finger syndactyly, Flexion contr... OMIM:203550
Osteogenesis Imperfecta, Type Viii
Osteopenia, Inguinal hernia, Slender long bone, Femoral retroversion, Femoral bowing, Tibial bowi... OMIM:610915
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Majeed Syndrome
Cachexia, Pustule, Splenomegaly, Metaphyseal irregularity, Congenital hypoplastic anemia, Abnorma... ORPHA:77297
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Renal ag... OMIM:212780
Burn-Mckeown Syndrome
Thin vermilion border, Unilateral renal agenesis, Short philtrum, Inguinal hernia, Mandibular pro... OMIM:608572
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Enamel hypoplasia, Failure to thrive, Carious teeth, Syndactyly OMIM:226700
Smith-Magenis Syndrome
Chronic otitis media, Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Short philtrum, M... ORPHA:819
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Dental crowding, Leukopenia, Syndactyly, Umbilical hernia, Joint hypermobility, Lon... OMIM:620654
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Preaxial polydactyly, Unilateral renal agenesis, High palate, Bilateral talipes equ... OMIM:618142
Hypomandibular Faciocranial Dysostosis
Death in infancy, Recurrent respiratory infections, Abnormal tracheobronchial morphology, Trachea... ORPHA:1790
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Momo Syndrome
Large for gestational age, Abnormal bone ossification, Thick lower lip vermilion, Delayed eruptio... ORPHA:2563
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Dentinogenesis imperfecta, Hip dysplasia, Joint hypermobility, Finger... OMIM:166200
Pycnodysostosis
Hypoplastic iliac wing, Mesomelia, Joint hypermobility, Delayed eruption of primary teeth, Short ... ORPHA:763
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Camurati-Engelmann Disease
Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral density, Mandibular prognathia,... OMIM:131300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo... OMIM:616507
49,Xxxxy Syndrome
Chronic otitis media, Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Talipes equinovar... ORPHA:96264
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Short metatarsal, Delayed eruption of teeth, Epiphyseal stippling, Con... OMIM:101800
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... OMIM:144750
Brittle Cornea Syndrome 1
Joint hypermobility, Atypical scarring of skin, Dentinogenesis imperfecta, Congenital hip disloca... OMIM:229200
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth, Decreased fibular diameter, ... OMIM:619489
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis OMIM:620183
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J... ORPHA:2485
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures OMIM:166260
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Abnormal dental enamel morphology, Episodic hemolytic anemia, Obesity, Macroscop... ORPHA:251004
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Rocker bottom foot, Everted upper lip vermilion, Unilateral renal agenesis, Short philtrum, Sanda... OMIM:619951
Ck Syndrome
Retrognathia, Abnormal cortical bone morphology, Dental crowding, High palate, Abnormal digit mor... OMIM:300831
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Diaphyseal dysplasia, Hepatomegaly, Hemolytic-uremic syndrome, Osteoporo... OMIM:614727
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Skin rash, Calvarial hyperostosis, Anemia of inadequate production, Fai... OMIM:612714
Congenital Syphilis
Myocarditis, Periostitis, Pancreatitis, Anemia, Maculopapular exanthema, Tibial bowing, High pala... ORPHA:499009
Emanuel Syndrome
Congenital diaphragmatic hernia, Recurrent otitis media, Unilateral renal agenesis, Broad jaw, To... ORPHA:96170
Nager Syndrome
Abnormal palate morphology, Hypoplasia of the radius, Triphalangeal thumb, Unilateral renal agene... ORPHA:245
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b... ORPHA:1782
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormality of the urethra, Ectopic kidney, Hypospadias, Hypopla... ORPHA:887
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Crani... OMIM:122860
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossification, Femoral bowi... OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Generalized aminoaciduria, Delayed eruption of teeth, Delayed epiphyseal... OMIM:264700
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Familial Expansile Osteolysis
Fragile teeth, Premature loss of teeth, Bowing of the long bones, Thin bony cortex, Hydroxyprolin... OMIM:174810
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Tracheal s... ORPHA:3301
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteoly... OMIM:265800
Fraser Syndrome 3
Abnormal lung lobation, Stillbirth, Hypoplasia of penis, Ureteral agenesis, Tracheal atresia OMIM:617667
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular ... ORPHA:2325
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Renal tubul... OMIM:618349
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Joint hyp... OMIM:618205
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Specific Granule Deficiency 2
Amelogenesis imperfecta, Osteopenia, Recurrent otitis media, Anemia, Sandal gap, Conical tooth, T... OMIM:617475
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Short philtrum, Cleft palate, Pierre-Robin sequence, Smooth philtrum, ... OMIM:619504
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Renal phosphate wasting, Delayed eruption of teeth, R... ORPHA:289176
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Delayed eruption of teeth, Increased body weight, Omphalocele, Congenital hip dislocation... OMIM:614450
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Brachydactyly, Abnormal epiphysis morphology, Neu... ORPHA:2643
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Subperiosteal bone formation, Hyperostosis, Ename... OMIM:211900
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Increased susceptibility to fractures, Hepatomegaly, Generalized aminoaciduria, Delayed ... ORPHA:289157
Lowry-Maclean Syndrome
Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor... ORPHA:1798
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Hepatitis, Thick vermilion border ORPHA:363523
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Obesity, Large ... OMIM:157980
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping fingers, High, narrow palate, Recurrent otitis media, Unilateral renal agenesis, Join... OMIM:618494
Takenouchi-Kosaki Syndrome
Widely spaced teeth, Hypospadias, Short philtrum, Inguinal hernia, Unilateral renal agenesis, Pro... OMIM:616737
Braddock Syndrome
Preaxial hand polydactyly, Failure to thrive, Micrognathia, Unilateral renal agenesis ORPHA:52047
Inverted Duplicated Chromosome 15 Syndrome
Clinodactyly of the 5th finger, Unilateral renal agenesis, Short philtrum, 2-3 toe syndactyly, Hi... ORPHA:3306
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia, Thin upper lip vermilion, Syndactyly OMIM:613576
Pseudohypoparathyroidism Type 1B
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Increased bone ... ORPHA:94089
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Aredyld Syndrome
Lipoatrophy, Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental... ORPHA:1133
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Bilateral cleft pala... OMIM:614900
Chondrodysplasia, Blomstrand Type
Stillbirth, Flared metaphysis, Squared iliac bones, Micromelia, Micrognathia, Advanced tarsal oss... OMIM:215045
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis, Cleft upper lip, Micrognathia, Cleft p... OMIM:601076
Mulibrey Nanism
Hepatomegaly, Thickened cortex of long bones, Cardiomegaly, Absent frontal sinuses, Dental crowdi... OMIM:253250
Pseudohypoparathyroidism, Type Ia
Short finger, Low urinary cyclic AMP response to PTH administration, Short metatarsal, Delayed er... OMIM:103580
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Micrognathia, Umbilical hernia, Neph... OMIM:618272
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... ORPHA:628
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Dysosteosclerosis
Broad femoral neck, Absent paranasal sinuses, Clavicular sclerosis, Abnormal metaphyseal trabecul... OMIM:224300
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Microdontia, Tooth agenesis, Micrognathia, Short ... ORPHA:633
Granulomatosis With Polyangiitis
Pleuritis, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage fluid neutrophil propo... OMIM:608710
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the ph... ORPHA:2863
Branchioskeletogenital Syndrome
Upper limb peromelia, Ureteral stenosis, Bifid uvula, Umbilical hernia, Craniosynostosis, Short p... ORPHA:1299
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a... ORPHA:1077
Eiken Syndrome
Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Nephrolithiasis, Hypodontia, Shagree... ORPHA:1816
Catifa Syndrome
Inguinal hernia, Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly,... OMIM:618761
Frank-Ter Haar Syndrome
Acne, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eru... ORPHA:137834
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta,... ORPHA:536467
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Anemia, Arthritis, Persistence of primary teeth, Proteinuria, Renal in... ORPHA:375
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Recurrent otitis media, Hypospadias, Conical tooth, Narrow mouth, M... OMIM:129400
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone mineral density... ORPHA:163649
Oligomeganephronia
Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat... ORPHA:2260
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Carious teeth, Radioulnar synostosis, M... ORPHA:3270
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Stomatitis, Glossitis, Skin rash, Megaloblastic anemia, Failure to thr... ORPHA:79284
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Postaxial polydactyly, Broad hallux, Tented upper lip vermilion, Open ... OMIM:616362
Anencephaly 2
Anophthalmia OMIM:619452
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2026
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Supernumerary tooth, Agenesis of molar, Hypospadias, Bicoronal synostosis, Microdonti... OMIM:619718
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated... ORPHA:666
Braddock-Carey Syndrome 1
Talipes equinovarus, Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Pierre-Robin ... OMIM:619980
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandi... ORPHA:85184
Oculodentodigital Dysplasia
Vertebral hyperostosis, Joint contracture of the 5th finger, Broad alveolar ridges, Premature los... OMIM:164200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Crumpled long bones, Femoral retroversion, Micromelia, Decreased calvaria... OMIM:610682
Oculodentodigital Dysplasia
Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Cranial hyper... ORPHA:2710
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening ORPHA:139474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Flat capital femoral epiphysis, Delayed eruption of teeth, Dislocated radial head, Fl... OMIM:612350
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hypercalciuria, Premature loss of teeth, Increased urine deoxypyridinoline level, Inc... OMIM:239000
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita OMIM:217150
Gorham-Stout Disease
Mandibular pain, Abnormal ethmoid bone morphology, Abnormal bone ossification, Osteopenia, Abnorm... ORPHA:73
Fliedner-Zweier Syndrome
Unilateral renal agenesis, High palate, Obesity, Hydronephrosis, Long philtrum, Joint hypermobili... OMIM:620511
Hypophosphatasia, Childhood
Elevated urine pyrophosphate, Carious teeth, Premature loss of primary teeth, Craniosynostosis, P... OMIM:241510
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Short metatarsal, Delayed eruption of teet... OMIM:612462
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing... OMIM:302350
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Short long bone, Ureteral atresia, Patent du... OMIM:618845
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... OMIM:114000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Nephrocalcinosis, Stage 5 chro... ORPHA:79259
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Shashi-Pena Syndrome
Retrognathia, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short metacarpal, Osteo... OMIM:617190
Proteus Syndrome
Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Cereb... OMIM:176920
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Increased overbite OMIM:618504
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl... ORPHA:251393
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Thin vermilion border, Second metatarsal posteriorly placed, Delayed eruption... OMIM:214150
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis OMIM:601355
Brachydactyly, Type E2
Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly OMIM:613382
12Q14 Microdeletion Syndrome
Thin vermilion border, Clinodactyly of the 5th finger, Ectopic kidney, Osteopoikilosis, Failure t... ORPHA:94063
Osteoglosphonic Dysplasia
Abnormal bone ossification, Rhizomelia, Inguinal hernia, Craniosynostosis, Tooth agenesis, Multip... ORPHA:2645
Geleophysic Dysplasia 3
Pneumonia, Tracheal stenosis OMIM:617809
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Jo... ORPHA:534
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Osteomalacia, Prema... OMIM:146300
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, Neutropenia, Joint hypermobility, Chronic mucocutaneous candidiasis, High pa... OMIM:619752
Raine Syndrome
Subperiosteal bone formation, Microdontia, Wide mouth, Increased bone mineral density, Micromelia... OMIM:259775
Bone Marrow Failure Syndrome 3
Aplastic anemia, Reduced bone mineral density, Microdontia, Joint hypermobility, Hernia, Neutrope... OMIM:617052
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Ectopic kidney, Truncal obesity, Inguinal hernia, Tooth malposition, Unilateral renal age... OMIM:616541
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Slender long bone, Tapered finger, Failure to thrive, Mi... ORPHA:444072
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis OMIM:244200
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Osteopetrosis, Delayed eruptio... ORPHA:2780
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheomalacia, Hypospadias, Tracheal stenosis OMIM:217980
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal bronchus morphology, Tracheal stenosis ORPHA:93352
Eec Syndrome
Renal hypoplasia/aplasia, Proximal placement of thumb, Inflammatory abnormality of the eye, Micro... ORPHA:1896
Seckel Syndrome 5
Retrognathia, Clinodactyly of the 5th finger, Hypospadias, Oligodontia, Selective tooth agenesis,... OMIM:613823
Otopalatodigital Syndrome Type 2
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ... ORPHA:90652
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Distal ren... OMIM:259730
Brachytelephalangic Chondrodysplasia Punctata
Abnormal bronchus morphology, Pulmonary artery stenosis, Recurrent respiratory infections, Trache... ORPHA:79345
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Laryngotracheal stenosis, Tracheoesophageal fistula, Neoplas... ORPHA:142
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Schnitzler Syndrome
Hepatomegaly, Anemia, Increased bone mineral density, Arthritis, Skin rash, Leukocytosis, Splenom... ORPHA:37748
Hydrolethalus
Tracheal atresia ORPHA:2189
Oculoskeletodental Syndrome
Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia, Hypoplas... ORPHA:557003
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Prominent median palatal raphe, Exaggerated median tongue... OMIM:300602
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Downturned corners of mouth, Micrognathia, Unilateral renal agenesis, Craniosynostosis ORPHA:1064
Grant Syndrome
Abnormal palate morphology, Abnormal cortical bone morphology, Open bite, Decreased skull ossific... ORPHA:2097
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... OMIM:620099
Filippi Syndrome
Thin vermilion border, Finger clinodactyly, Short philtrum, Serrated incisors, Decreased body wei... OMIM:272440
Seckel Syndrome 1
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Cone-shaped epiphyses of the phalanges o... OMIM:210600
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Increase... OMIM:113650
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Short distal phalanx of finger,... OMIM:210720
Dyskeratosis Congenita
Hepatomegaly, Anemia, Periodontitis, Abnormality of the dentition, Osteoporosis, Hypoplasia of th... ORPHA:1775
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Tracheal calcification, Tracheal stenosis OMIM:302960
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Rootless teeth, Hyperoxalur... ORPHA:416
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Patent ductus a... OMIM:619293
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Unilateral renal agenesis, Clinodactyly of the 2nd finger, ... ORPHA:221139
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral density, Decreased body wei... OMIM:617306
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, 4-5 toe syndactyly, Enamel hypo... OMIM:613573
Dermatitis Herpetiformis
Delayed eruption of teeth, Eczematoid dermatitis, Microcytic anemia, Dental enamel pits, Erosion ... ORPHA:1656
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Proximal placement of thumb, Wide mouth, Long philtrum, Overlapping toe, Clinodactyly, Hypospadia... ORPHA:487796
Diastrophic Dysplasia
Costal cartilage calcification, Hip contracture, Laryngotracheal stenosis OMIM:222600
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m... ORPHA:1452
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Hammertoe, Inguinal hernia, Talipes equinovaru... OMIM:608022
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits, Scarring alopecia of scalp OMIM:619787
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ... OMIM:619797
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Folliculitis, Enamel hypoplasia, Carious teeth, Blepharitis, Keratiti... OMIM:612843
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Bifid uvula, Wide mouth, Symphalangism affecting the phalanges of the... ORPHA:2658
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Joi... ORPHA:2107
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Hamamy Syndrome
Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Long toe, I... OMIM:611174
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Hepatomegaly, Short philtrum, Dental crowding, ... OMIM:618342
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Flared metaphysis, Dental crowding, Mandibular prognathia, High palate, ... OMIM:269300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Hypoplastic pelvis, Syndactyly, Umbilical hernia, 4-5 toe syndactyly, Stillbirth, Apl... OMIM:308050
Celiac Disease, Susceptibility To, 1
Rickets, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, Stomatitis, Th... OMIM:212750
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Thrombocytopenia, Deep philtrum ORPHA:1237
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, High palate, Unilateral renal agenesis, Micropenis OMIM:308750
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Retrognathia, Chronic otitis media, Joint hypermobility, Cranios... ORPHA:96121
Desmosterolosis
Retrognathia, Osteopetrosis, Renal hypoplasia/aplasia, Increased bone mineral density, Narrow mou... ORPHA:35107
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Cleft pala... OMIM:118100
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Clubbing, Flared iliac wing, Leukopenia, Splenomegaly, Neutropenia, Focal segmen... OMIM:617303
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Camptodactyly of finger, Large h... ORPHA:3220
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Genu valgum, Medullary nephrocalcinosis, Hypoplasia of teeth, Carious t... OMIM:613312
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cranial hyperostosis, Osteopetrosis, Hip subluxation, Hepatomegaly, Anemia, Flared me... OMIM:259720
Potocki-Shaffer Syndrome
Anemia, Short philtrum, Decreased skull ossification, Downturned corners of mouth, Micrognathia, ... ORPHA:52022
Cerebellofaciodental Syndrome
Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Tapered finger, Proximal femoral ... OMIM:616202
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Tracheal stenosis ORPHA:2637
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... OMIM:170390
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Bicoronal synostosis, Dental crowding, Oligodontia, Short long bone, Tracheobronchom... OMIM:619184
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Incisor macrodontia, Atopic dermatitis, Congenital hip dislocation, Achi... OMIM:619719
Rothmund-Thomson Syndrome
Aplastic anemia, Reduced bone mineral density, Skin rash, Microdontia, Neutropenia, Hypoplasia of... ORPHA:2909
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Osteopenia, Craniosynostosis, Delayed eruption of teeth, Skin rash, Gingivi... ORPHA:2314
Cockayne Syndrome Type 2
Scarring, Hypoplasia of the primary teeth, Hepatomegaly, Mandibular prognathia, Uveitis, Enamel h... ORPHA:90322
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Neonatal death, Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Low urinary cyclic AMP response to PTH administration, Short metatarsal, De... ORPHA:79444
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Isolated Agammaglobulinemia
Clinodactyly of the 5th toe, Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, S... ORPHA:229717
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Retrognathia, 3-Methylglutaconic aciduria, Hepatomegaly, Camptodactyly, Failu... OMIM:604273
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia, Abnormality of the gingiva ORPHA:517
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Clinodactyl... OMIM:616354
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia ORPHA:3214
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join... OMIM:154400
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal craniosynostosis, Decreased... OMIM:614592
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Everted lowe... OMIM:619736
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyly of the 5th fi... ORPHA:952
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Prominent... OMIM:613684
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve... OMIM:618506
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Anemia, Mitten deformity, Atrophic scars, Carious teeth, Urethral ... ORPHA:79409
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hypo... OMIM:612651
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve... OMIM:601957
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Cleft upper lip, Cleft palate, Hyperec... OMIM:613885
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... OMIM:201000
Coach Syndrome 1
Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Postaxial hand polydactyly, Renal cyst... OMIM:216360
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Leukopenia, Thro... OMIM:619151
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u... ORPHA:432
Myoectodermal Gonadal Dysgenesis Syndrome
Limited elbow extension, Thin vermilion border, Unilateral renal agenesis, Accessory spleen, Hypo... OMIM:618419
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Anemia, Mitten deformity, Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flex... OMIM:226600
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Splenomega... OMIM:252500
Camurati-Engelmann Disease
Abnormal femur morphology, Cachexia, Leukopenia, Splenomegaly, Craniofacial osteosclerosis, Coxa ... ORPHA:1328
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Anemia, Aplasia/Hypopla... ORPHA:337
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Ankle flexion contracture, Severe failure to thrive, Abnormal renal collecting syst... ORPHA:468631
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Hypophosphatasia
Abnormal metaphysis morphology, Anemia, Craniosynostosis, Abnormality of the dentition, Bowing of... ORPHA:436
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Renal hypoplasia/aplasia, Anemia, Hypospadias, Sandal gap, Hypoplasia of p... ORPHA:1046
Atkin-Flaitz Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,... ORPHA:1193
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Inguinal hernia, Pos... OMIM:213980
H Syndrome
Abnormality of the kidney, Enlarged kidney, Hallux valgus, Gingival overgrowth, Camptodactyly, Ch... ORPHA:168569
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger... ORPHA:2635
Nail-Patella Syndrome
Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t... ORPHA:2614
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Hypospadias, Patent ductus arteriosus, Bowing of the long bones, Renal age... ORPHA:171839
Eem Syndrome
Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno... ORPHA:1897
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Failure to ... OMIM:618874
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... OMIM:618188
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, Persistence of p... OMIM:618727
Schwartz-Jampel Syndrome
Flexion contracture of toe, Cachexia, Everted lower lip vermilion, Wrist flexion contracture, Abn... ORPHA:800
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Broad distal phalanx of finger, Hydroureter, Unilateral renal agenesis, Genu valgum... OMIM:619194
Tetrasomy 12P
Abnormal soft palate morphology, Delayed eruption of teeth, Cachexia, Everted lower lip vermilion... ORPHA:884
Atelis Syndrome 1
Anemia, High palate, Eczematoid dermatitis, Bronchiectasis, Carious teeth, Leukopenia, Thrombocyt... OMIM:620184
Craniometaphyseal Dysplasia, Autosomal Recessive
Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-shaped distal femur, Facial... OMIM:218400
Igg4-Related Thyroid Disease
Tracheal stenosis ORPHA:64744
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Cockayne Syndrome Type 1
Scarring, Hypoplasia of the primary teeth, Hepatomegaly, Anemia, Foot joint contracture, Mandibul... ORPHA:90321
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Osteolysis, Anemia, Hyperostosis, Arthritis, Skin rash, Abnormal ... ORPHA:324964
Trichorhinophalangeal Syndrome, Type I
Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Long ... OMIM:190350
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short metacar... ORPHA:50945
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Premature loss of teeth, Gingivitis, Splenomegaly, Recurrent fr... OMIM:618107
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Aarskog-Scott Syndrome
Orofacial cleft, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Fing... ORPHA:915
Temple-Baraitser Syndrome
Everted upper lip vermilion, Delayed eruption of teeth, Triangular shaped distal phalanx of the t... ORPHA:420561
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,... ORPHA:181
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop... ORPHA:950
Aa Amyloidosis
Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Steatocystoma Multiplex
Natal tooth OMIM:184500