Gene Summary

grainyhead like transcription factor 3
ct,  Som,  Get1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased circulating alkaline phosphatase level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.28×10-10
increased startle reflex Grhl3tm1a(EUCOMM)Wtsi HET   Early adult 4.48×10-06
increased circulating phosphate level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.67×10-07
abnormal retina morphology Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.66×10-05
abnormal eye morphology Grhl3tm1a(EUCOMM)Wtsi HET Early adult 1.22×10-05
decreased circulating triglyceride level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 7.71×10-06
decreased blood urea nitrogen level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.92×10-06
increased circulating glucose level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 2.76×10-07
abnormal locomotor activation Grhl3tm1a(EUCOMM)Wtsi HET Early adult 9.77×10-06
increased circulating calcium level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 1.60×10-05
increased circulating amylase level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 4.58×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Phenotype associated images not available

Human diseases caused by Grhl3 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.

The table below shows human diseases associated to Grhl3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Grhl3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis, Epidermal acanthosis OMIM:617115
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Cleft palate OMIM:119550
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin, Palmoplantar keratoderma, Hyperkeratotic papule OMIM:146590
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Scaling skin, Hyperkeratosis, Erythema OMIM:617571
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Psoriasis 2
Parakeratosis, Scaling skin, Hyperkeratosis, Epidermal acanthosis OMIM:602723
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Epidermolytic Hyperkeratosis
Scaling skin, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:113800
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Peeling Skin Syndrome 4
Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythema OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis, Erythema OMIM:617525
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Nonepidermolytic palmoplantar hyperkeratosis, Scaling skin, Diffuse palmoplantar hyperkeratosis, ... ORPHA:530838
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:101900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Peeling Skin Syndrome 6
Parakeratosis, Scaling skin, Dry skin, Orthokeratosis OMIM:618084
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... OMIM:218670
Hydrocephalus, Congenital, 3, With Brain Anomalies
Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cerebellar agenesis, Da... OMIM:617967
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Poor suck, Abnormal large intestine morphology, Nausea and vomiting, Eso... ORPHA:2198
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema ORPHA:2337
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... ORPHA:1528
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin OMIM:105250
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Parakeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma, Epidermal ... OMIM:612281
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Anencephaly 2
Anencephaly OMIM:619452
Anencephaly ORPHA:1681
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, White scaling skin, Palmoplantar keratoderma, Epidermal acanthosis OMIM:604777
Congenital Panfollicular Nevus
Hyperkeratosis, Pruritus ORPHA:139414
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Caudal Duplication
Myelomeningocele, Spina bifida, Vertebral segmentation defect, Abnormal sacrum morphology, Spinal... ORPHA:1756
Schisis Association
Spina bifida, Anencephaly, Encephalocele, Microcephaly ORPHA:63862
Blue Diaper Syndrome
Hyperphosphatemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta, Scoliosis, Abnormal vertebral morphology ORPHA:64754
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis, Epidermal acanthosis ORPHA:199267
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis... ORPHA:79395
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy... ORPHA:94090
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Microcephaly, Hypoplasia of the corpus ca... OMIM:611134
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Microcephaly OMIM:601355
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck,... ORPHA:2345
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Epidermal acant... OMIM:616295
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Bazex Syndrome
Parakeratosis, Scaling skin, Palmoplantar keratoderma, Hyperkeratosis ORPHA:166113
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... ORPHA:2570
Bathing Suit Ichthyosis
Palmoplantar hyperkeratosis, Parakeratosis, Scaling skin, Palmoplantar scaling skin, Epidermal ac... ORPHA:100976
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Beaking of vertebr... ORPHA:40
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Epidermal acanthosis, Erythema, Orthokeratosis OMIM:613943
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Scaling skin, Generalized hyperkeratosis, Epidermal acanthosis, Dry skin ORPHA:2269
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Pachygyria, Ag... OMIM:605013
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... ORPHA:1991
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema ORPHA:90158
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anencephaly, Holoprosencephaly, Microce... ORPHA:1590
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Atrophoderma Vermiculata
Abnormal epidermal morphology, Hyperkeratotic papule, Follicular hyperkeratosis, Erythema ORPHA:79100
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Aplasia/Hypo... ORPHA:1908
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Bleeding with minor or no trauma, Hyperkeratosis, Recurrent ... ORPHA:79503
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Dandy-Walker malformation OMIM:603194
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy OMIM:207950
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis OMIM:148600
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Skin Fragility-Woolly Hair Syndrome
Acantholysis, Palmoplantar erythema, Palmoplantar scaling skin, Palmoplantar hyperkeratosis OMIM:607655
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis OMIM:184300
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Hyperkeratosis ORPHA:1659
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Scaling skin, Hyperkeratosis, Epidermal acanthosis ORPHA:90368
Mal De Meleda
Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Ery... ORPHA:87503
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Lupus Erythematosus Tumidus
Scaling skin ORPHA:90283
Olmsted Syndrome, X-Linked
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... OMIM:300918
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Short neck, Scoli... OMIM:271530
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Joubert Syndrome 18
Occipital encephalocele, Arrhinencephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis OMIM:133200
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Epidermolytic Palmoplantar Keratoderma
Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma... ORPHA:2199
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Hyperkeratosis, Dry skin, Erythema OMIM:614457
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia OMIM:604484
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Hydrocephalus, Thoracolumbar kyphosis OMIM:236660
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis OMIM:615735
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Irregular vertebral endplates, Thoracic kyphosis, Scoliosis, Plat... OMIM:609223
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... OMIM:617914
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia, Difficulty walking, Hypocalcemia ORPHA:99845
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, H... OMIM:225790
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Cerebellar hypoplasia OMIM:614175
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Parc Syndrome
Cleft palate OMIM:600331
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Gait ataxia, Blepharospasm, Aceruloplasminemia, Akinesia, Retinal degeneration, Decreased circula... ORPHA:48818
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Brachyolmia Type 2
Platyspondyly OMIM:613678
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Irregular vertebral endplates, Schmorl's node, Platyspondyly OMIM:604864
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis, Skin vesicle, Erythema ORPHA:2841
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Stillbirth OMIM:265880
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Brachyolmia, Maroteaux Type
Scoliosis, Abnormal form of the vertebral bodies, Platyspondyly ORPHA:93302
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Hyperkeratotic papule ORPHA:79147
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... ORPHA:2494
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Scaling skin, Psoriasiform lesion ORPHA:284426
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation, Feeding difficulties in infancy ORPHA:704
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Anophthalmia Plus Syndrome
Spina bifida, Vertebral segmentation defect ORPHA:1104
Anencephaly, Arrhinencephaly, Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2189
Iga Pemphigus
Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis, Pustule, Eosinophil... ORPHA:555905
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Retinopathy, Hyperuricemia, Angioid streaks of the fundus, Retinal degeneratio... OMIM:239000
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis OMIM:610227
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Chilblain Lupus 1
Skin ulcer OMIM:610448
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Ichthyosis With Confetti
Scaling skin, Palmoplantar hyperkeratosis OMIM:609165
Eosinophilic Gastroenteritis
Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Ste... ORPHA:2070
Centrifugal Lipodystrophy
Scaling skin, Erythema ORPHA:90156
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer ORPHA:312
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Lumbar scoliosis, Kyphoscoliosis, Platyspondyly, Acne OMIM:612847
Meckel Syndrome 12
Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Microcephaly, Agenesis of cerebellar... OMIM:616258
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Kyphosis, Spinal rigidity, Short neck, Scoliosis OMIM:300718
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... OMIM:615508
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Palmoplantar keratoderma, Dry skin OMIM:618373
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia OMIM:236500
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Non-Functioning Paraganglioma
Tremor, Hypercalcemia, Hypertensive retinopathy ORPHA:94080
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Sacral dimple, Intrauterine growth retardation, Abnormal form of the vertebral bodies ORPHA:1327
Darier-White Disease
Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyperkeratotic fragments OMIM:124200
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Vertebral wedging, Kyphoscoliosis, Platyspondyly OMIM:616583
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Angioid streaks of the fundus, Calcinosis OMIM:211900
Masa Syndrome
Hyperlordosis, Hydrocephalus, Kyphosis OMIM:303350
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ... OMIM:148700
Morquio Syndrome C
Platyspondyly OMIM:252300
Fountain Syndrome
Kyphosis, Spina bifida, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Pemphigus Foliaceus
Acantholysis, Scaling skin, Skin vesicle, Erythema ORPHA:79481
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Syr... ORPHA:63259
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Hyperphosphatemia ORPHA:280062
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Palmoplantar keratoderma ORPHA:455
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula OMIM:258320
Naxos Disease
Sudden cardiac death, Sparse eyebrow, Right bundle branch block, Right ventricular cardiomyopathy... OMIM:601214
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Pruritus, Abnormal bleeding, Gastrointestinal hemorrhage ORPHA:79301
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Retinal calcification, Transient hypophosphatemia, Hypocalcemia, Papilledema OMIM:127000
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Second Metatarsal-Metacarpal Syndrome
Platyspondyly OMIM:269630
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Synophrys, Aganglionic megacolon, White eyelashes, White eyebrow, Ptos... ORPHA:894
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Hyperkeratosis, Dry skin OMIM:609180
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Retinal thinning, Optic disc pallor, Ataxia OMIM:618970
Sprengel Deformity
Spina bifida occulta, Hemivertebrae, Cervical segmentation defect, Scoliosis OMIM:184400
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy... ORPHA:94089
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis OMIM:618323
Peeling Skin Syndrome 1
Scaling skin OMIM:270300
Spina bifida, Sirenomelia ORPHA:3169
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Angioma, Hereditary Neurocutaneous
Horner syndrome, Gastrointestinal hemorrhage OMIM:106070
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Episodic abdominal pain, Abnormality of the orbital region, Colorectal polyposis, Multiple intest... ORPHA:251992
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... OMIM:618858
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia OMIM:613148
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hyperkalemia, Elevated circulating creatine ... ORPHA:94093
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Platyspondyly ORPHA:163665
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Vulvovaginal Gingival Syndrome
Parakeratosis, Epidermal acanthosis, Erythema ORPHA:83453
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Retinal degeneration, Hyperglycemia, Unsteady gait, Pigmentary retinop... OMIM:520000
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Biconcave vertebral bodies, Vertebral compression fracture OMIM:613982
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Brachyolmia Type 1, Toledo Type
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Squared-off platyspondy... OMIM:271630
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Spina bifida, Porencephalic cyst, Cerebral calcification, Hydranen... ORPHA:1393
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Optic atrophy, Writer's cramp, Hypocalcemia, Hypomagnesemia ORPHA:428
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615022
Cole Disease
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, E... OMIM:615522
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Absent eyelashes, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis, P... OMIM:602540
Hypercalcemia ORPHA:436
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Cutaneous Mastocytoma
Scaling skin, Erythema ORPHA:79455
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Lip pit, Cleft palate ORPHA:1072
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Classic Mycosis Fungoides
Hyperkeratosis, Skin ulcer, Dry skin, Erythema ORPHA:2584
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Gait disturbance, Limb ataxia, Tremor, Diffic... ORPHA:98764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Hydromyelia, Cerebellar hypoplasia... OMIM:615287
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Absent eyelashes, Oligohydramnios, Hypovolemic shock, Absent e... ORPHA:158687
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macular dystrophy, Abnormal retinal morphology on macular OCT, Hyp... ORPHA:251004
Buerger Disease
Skin ulcer ORPHA:36258
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Polyhydramnios, Bloody diarrhea, Enterocolitis, Jejunal atresia, Death in childhood, Death in inf... OMIM:243150
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Scoliosis, Kyphosis OMIM:617404
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Wild Type Abeta2M Amyloidosis
Macroglossia, Congestive heart failure, Arrhythmia, Abnormal intestine morphology, Gastrointestin... ORPHA:85446
Winchester Syndrome
Kyphosis OMIM:277950
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... ORPHA:1876
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2437
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Spina bifida occulta at S1, Abnormal vertebral morphology OMIM:102510
Lichen Planopilaris
Hyperkeratosis, Abnormal intestine morphology, Pruritus, Pterygium ORPHA:525
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Solitary Rectal Ulcer Syndrome
Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Stercoral ulcer, Abdominal pain,... ORPHA:209964
Blepharospasm, Aceruloplasminemia, Retinal degeneration, Torticollis, Decreased serum iron, Ataxi... OMIM:604290
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, G... ORPHA:2924
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Malignant Atrophic Papulosis
Abnormal conjunctiva morphology, Pleural effusion, Constrictive pericarditis, Gastrointestinal he... OMIM:602248
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... OMIM:606176
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Hypertensive retinopathy OMIM:171420
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth OMIM:217150
Olmsted Syndrome 2
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Palmoplantar... OMIM:619208
Pemphigus Erythematosus
Acantholysis, Malar rash ORPHA:79480
Neuronopathy, Distal Hereditary Motor, Type Viii
Hyperlordosis, Scoliosis, Kyphosis OMIM:600175
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly, Prominent protruding coccyx, Abnormal form of the v... ORPHA:2839
Sacral Defect With Anterior Meningocele
Meningocele, Back pain, Myelomeningocele, Hydromyelia, Hemisacrum, Absence of the sacrum, Anterio... OMIM:600145
Peptic ulcer, Malabsorption, Edema, Ptosis, Joint swelling, Gastrointestinal hemorrhage, Eczemato... ORPHA:2796
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Familial Hypofibrinogenemia
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage ORPHA:98881
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratosis ORPHA:38
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Vertebral segmentation defect ORPHA:1120
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Toxic Epidermal Necrolysis
Sudden cardiac death, Intestinal perforation, Conjunctivitis, Entropion, Nausea and vomiting, Mal... ORPHA:537
Metatropic Dysplasia
Kyphosis, Hydrocephalus, Abnormal intervertebral disk morphology, Hypoplastic cervical vertebrae,... ORPHA:2635
Amish Lethal Microcephaly
Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:99742
Ichthyosis, Congenital, Autosomal Recessive 10
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma OMIM:615024
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Parietal Foramina 1
Cleft palate, Cleft upper lip, Encephalocele OMIM:168500
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Isolated Dandy-Walker Malformation
Cleft palate, Encephalocele ORPHA:217
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Mucosal telangiectasiae, Skin rash, ... ORPHA:779
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Dengue Fever
Hypotension, Diarrhea, Petechiae, Cerebral hemorrhage, Nausea and vomiting, Skin rash, Abdominal ... ORPHA:99828
Glanzmann Thrombasthenia
Spontaneous, recurrent epistaxis, Purpura, Bruising susceptibility, Ecchymosis, Prolonged bleedin... ORPHA:849
Netherton Syndrome
Hypereosinophilia, Sparse eyebrow, Villous atrophy, Hypernatremic dehydration, Parakeratosis, Abn... OMIM:256500
Stevens-Johnson Syndrome
Sudden cardiac death, Conjunctivitis, Esophageal stricture, Diarrhea, Entropion, Nausea and vomit... ORPHA:36426
Warty Dyskeratoma
Acantholysis, Neoplasm of the tongue, Abnormal bleeding ORPHA:69745
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Epiphyseal Dysplasia, Multiple, 7
Vertebral wedging, Platyspondyly OMIM:617719
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy... ORPHA:79444
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death OMIM:609638
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Waddling gait OMIM:156400
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Chilblain Lupus
Hyperkeratosis, Skin ulcer ORPHA:90280
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Paucity of anterior horn motor neurons, Short neck, Scoliosis, Neonatal death, Abnormal... OMIM:611890
Split Cord Malformation
Meningocele, Hyperlordosis, Back pain, Myelomeningocele, Hydromyelia, Abnormal lumbar spine morph... ORPHA:573278
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Vomiting, Chronic diarrhea, Skin rash, Chronic constipation, Abdominal pain, Erys... OMIM:142680
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Retinal calcification, Hypocalcemic seizures, Papilledema ORPHA:93325
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Irregular vertebral endplates, Spinal dysraphism, Caudal interpedicular narrowing, Scoliosis, Pos... OMIM:603546
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Edema, Dehydration, Protein-losing enteropathy, Hematochezia ORPHA:103910
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Retinopathy, Aplasia/Hypoplasia of the fovea ORPHA:2611
Diabetic Embryopathy
Vertebral segmentation defect, Spinal dysraphism, Hydrocephalus, Abnormal sacrum morphology ORPHA:1926
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Cleft lip, Tented upper lip vermilion, Cleft palate OMIM:616898
Bernard-Soulier Syndrome
Abnormal bleeding, Purpura, Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, Menorrhagi... OMIM:231200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Glanzmann Thrombasthenia 1
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... OMIM:273800
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Aqueductal stenosis ORPHA:1788
Vacterl With Hydrocephalus
Aqueductal stenosis, Absence of the sacrum, Spina bifida, Arrhinencephaly, Hydrocephalus, Hemiver... ORPHA:3412
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Cleft lip OMIM:612370
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Intrauterine growth retardation, Kyphosis OMIM:618237
Brachyolmia Type 3
Kyphosis, Spinal cord compression, Short neck, Scoliosis, Platyspondyly OMIM:113500
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Type I diabetes mellitus, Hypo... ORPHA:199299
Vascular Hyalinosis
Diarrhea, Malabsorption, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia OMIM:277175
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Platyspondyly OMIM:230650
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... ORPHA:160148
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hermansky-Pudlak Syndrome
Malabsorption, Abdominal pain, Abnormal bleeding, Long eyelashes, Bruising susceptibility, Epista... ORPHA:79430
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Choreoathetosis, Laryngeal dystonia, Hypocalc... ORPHA:79443
Fetal Akinesia Deformation Sequence 4
Neonatal death, Short neck, Kyphosis OMIM:618393
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... OMIM:604367
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Scoliosis, Umbilical hernia ORPHA:2181
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly ORPHA:85174
Peutz-Jeghers Syndrome
Stomach cancer, Vomiting, Abnormality of the gastrointestinal tract, Esophageal neoplasm, Neoplas... ORPHA:2869
Neu-Laxova Syndrome 2
Spina bifida, Short neck, Scoliosis, Intrauterine growth retardation OMIM:616038
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Retinopathy, Hypokalemia, Hypophosphatemia, Gait disturbance, Type I diabetes mellitus ORPHA:213
Lichen Planus Pemphigoides
Conjunctivitis, Hyperkeratosis, Pruritus, Blepharitis ORPHA:254478
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic atrophy, Akinesia, Truncal ataxia, Choreoathetosis, Optic neuropathy, Opti... OMIM:618249
Atypical Juvenile Parkinsonism
Gait ataxia, Shuffling gait, Akinesia, Resting tremor, Inability to walk, Short stepped shuffling... ORPHA:391411
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anencephaly, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum OMIM:619148
Trisomy 20P
Kyphosis, Spina bifida, Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of th... ORPHA:261318
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Bloody diarrhea,... ORPHA:464321
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Gait imbalance, Falls, Akinesia, Short stepped shuffling gait, Freezing of gait, L... ORPHA:240094
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Skin ulcer ORPHA:231
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Pentalogy Of Cantrell
Anencephaly, Hydrocephalus, Encephalocele ORPHA:1335
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Diabetes mellitus, Postprandial hypergl... ORPHA:2088
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Acute Adrenal Insufficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Scoliosis, Platyspondyly, Intrauterine growth retardation OMIM:234250
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Tethered cord, Butterfly vertebrae, Absence of the sacrum OMIM:617660
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria OMIM:616546
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Diarrhea, Skin rash, Abdominal pain, Cardiac arrest, Epistaxis, Constipation, Gastrointestinal he... ORPHA:99745
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Lymphatic Malformation 4
Pedal edema, Hyperkeratosis, Lymphedema OMIM:615907
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly OMIM:618728
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypercalcemia, Hypertensive retinopathy ORPHA:276621
Desmoid Tumor
Malabsorption, Abdominal pain, Intestinal polyposis, Intestinal obstruction, Desmoid tumors, Gast... ORPHA:873
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Cervical spinal canal stenosis, Scoliosis, Kyphosis OMIM:301900
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Optic atrophy OMIM:101800
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Death in adolescence, Hyper... OMIM:620014
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Abnormal stomach morphology ORPHA:281090
Cleft Soft Palate
Cleft soft palate OMIM:119570
Sandhoff Disease
Kyphosis ORPHA:796
Bamforth-Lazarus Syndrome
Cleft palate OMIM:241850
Severe Hemophilia A
Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising suscepti... ORPHA:169802
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Glossitis, Anorexi... OMIM:175500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Hypoplasia of the odontoid process, Cervical subluxation, Kyphosco... OMIM:184100
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis OMIM:613102
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Glucose int... ORPHA:552
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Nausea and vomiting, Skin rash, ... ORPHA:44890
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Wildervanck Syndrome
Meningocele, Fused cervical vertebrae, Short neck ORPHA:3456
Vomiting, Diarrhea, Edema, Gastrointestinal hemorrhage, Portal hypertension, Decreased liver func... ORPHA:79319
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Platyspondyly OMIM:313420
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Platyspondyly OMIM:609324
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele, Partial agenesis of the corpus callosum, Focal cortical dysplasia,... ORPHA:101030
Moderate Hemophilia A
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... ORPHA:169805
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Fibrous Dysplasia Of Bone
Antalgic gait, Increased circulating cortisol level, Hypophosphatemia, Diabetes mellitus, Hyperca... ORPHA:249
Aggressive Systemic Mastocytosis
Hypotension, Pruritus, Diarrhea, Malabsorption, Abdominal pain, Abdominal cramps, Anorexia, Gastr... ORPHA:98850
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology ORPHA:171851
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Jacobsen Syndrome
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Abnormality of the anus, Ectop... ORPHA:2308
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Vertebral segmentation defect, Anisospondyly, Kyphoscoliosis, Scoliosis, Platyspondyly ORPHA:85198
49,Xxxxy Syndrome
Hypoplasia of the corpus callosum, Arrhinencephaly, Holoprosencephaly ORPHA:96264
Vacterl/Vater Association
Occipital encephalocele, Anencephaly ORPHA:887
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Oral leukoplakia, Folli... OMIM:148500
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Hypoplasia of the odontoid process, Irregularity of vertebral bodies, Platyspondyly ORPHA:85172
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Tremor, Hypercalcemia ORPHA:476126
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Resting tremor, Postural tremor, Freezing of gait, Dystonia OMIM:619911
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Lymphedema, Abdominal pain, Acholic stools, Hyperlipidemia, Gastrointestinal... ORPHA:1414
Scaling skin ORPHA:79323
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Monosomy 13Q34
Insulin resistance, Hypercalcemia ORPHA:96168
Spinocerebellar Ataxia 21
Gait ataxia, Akinesia, Postural tremor, Limb ataxia, Ataxia, Progressive cerebellar ataxia, Dysto... OMIM:607454
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi