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Gene: Liph MGI:2388029

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lipase, member H
Synonyms:
C130037N08Rik,  PLA1B,  mPA-PLA1,  D16Wsu119e,  Lpdlr,  LPDLR

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Liph 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 predicted to be associated to Liph by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Carvajal Syndrome
Woolly hair ORPHA:65282
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Leopard Syndrome 2
Curly hair, Cafe-au-lait spot, Multiple lentigines OMIM:611554
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... ORPHA:1433
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... ORPHA:1882
Noonan Syndrome 6
Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait... OMIM:613224
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Cafe-au-lait spot, Multiple lentigines, Sparse hair... OMIM:615280
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Multiple lentigines, Low posterior hairline OMIM:613707
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Noonan Syndrome 5
Curly hair, Sparse eyebrow, Fine hair, Multiple lentigines, Small nail, Cafe-au-lait spot OMIM:611553
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair ORPHA:1264
Noonan Syndrome 8
Curly hair, Hyperpigmentation of the skin OMIM:615355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Smith-Kingsmore Syndrome
Curly hair, Cafe-au-lait spot OMIM:616638
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Cafe-au-lait spot, Hypopigmented skin patches ORPHA:457485
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrh... OMIM:301845
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Noonan Syndrome 4
Sparse eyebrow, Curly hair, High anterior hairline, Blue irides OMIM:610733
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline OMIM:617360
Obesity And Hypopigmentation
Red hair OMIM:620195
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Hyperpigmentation of the skin ORPHA:50812
Chops Syndrome
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Noonan Syndrome 14
Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline OMIM:619745
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Acrogeria
Irregular hyperpigmentation, Fine hair ORPHA:2500
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n... OMIM:222470
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... OMIM:304110
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... OMIM:617506
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... ORPHA:897
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... ORPHA:2710
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair ORPHA:1028
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Multiple... OMIM:115150
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair ORPHA:3447
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Multiple lentigines, Sparse hai... OMIM:607721
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Noonan Syndrome 10
Sparse eyebrow, Curly hair, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:616564
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Low posterior hairline, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:605275
Trichohepatoneurodevelopmental Syndrome
Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy... OMIM:618268
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Melanocytic ... ORPHA:978
Chand Syndrome
Curly hair, Nail dysplasia ORPHA:1401
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin OMIM:309400
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Irregul... ORPHA:634
Mucopolysaccharidosis, Type Iiia
Synophrys, Coarse hair, Hirsutism OMIM:252900
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Multiple cafe-au-lait spo... ORPHA:3353
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology ORPHA:3082
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Mucopolysaccharidosis, Type Iiic
Synophrys, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair ORPHA:2107
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... ORPHA:444077
Tonne-Kalscheuer Syndrome
Fine hair, Blue irides, Small nail, Concave nail OMIM:300978
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair OMIM:256500
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormality of skin pigmentation, Abnormal fingernail morphology, Fine hair ORPHA:1806
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, F... OMIM:601675
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... OMIM:268130
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Ca... OMIM:619950
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Brittle hair, Abnormality of hair texture OMIM:219200
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Costello Syndrome
Deep-set nails, Curly hair, Hyperpigmentation of the skin, Thin nail, Concave nail, Sparse hair, ... OMIM:218040
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... ORPHA:217346
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Trichorrhexis nodosa OMIM:616395
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Zttk Syndrome
Sparse eyebrow, Curly hair, Broad eyebrow OMIM:617140
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati... OMIM:308300
Costello Syndrome
Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Concave nail, Hypo... ORPHA:3071
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Nail dysplasia OMIM:613990
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Synophrys, Low anterior hairline, Fine hair ORPHA:391408
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection OMIM:158310
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow ORPHA:585
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Fine hair OMIM:620250
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... ORPHA:50814
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e... ORPHA:1071
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hypopigmentation of the skin OMIM:236200
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Acrofacial Dysostosis, Catania Type
Coarse hair, Abnormal hair pattern ORPHA:1786
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Few cafe-au-lait spo... OMIM:619503
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, Mottled pigmentation OMIM:608612
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair OMIM:614091
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Mongolian blue spot, Dry hair, Low anterior hairline OMIM:618569
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair ORPHA:1812
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Hypoplastic nipples, Depigmentation/hyperpigmentation of skin, Hypertrichosis ORPHA:480880
Cranioectodermal Dysplasia 3
Sparse hair, Short nail, Broad nail, Fine hair OMIM:614099
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism OMIM:617303
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Generalized hyperpigmentation, Abnormal eyelash morphology, Low ... ORPHA:1340
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Curly hair, Broad lateral eyebrow ORPHA:500150
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Diamond-Blackfan Anemia 21
Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak OMIM:620072
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Nail dysplasia OMIM:612394
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... ORPHA:2108
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Schimke Immunoosseous Dysplasia
Coarse hair, Hypermelanotic macule, Fine hair OMIM:242900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Trisomy 20P
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... ORPHA:261318
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Koolen-De Vries Syndrome
Fair hair, Iris hypopigmentation, Abnormality of hair texture OMIM:610443
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... ORPHA:2637
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Mucopolysaccharidosis, Type Iiid
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow OMIM:252940
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, Forehead hyperpigmentation OMIM:607812
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... ORPHA:920
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair ORPHA:261349
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Numerous pigmented freckl... ORPHA:33364
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized... ORPHA:1896
Weaver Syndrome
Deep-set nails, Thin nail, Melanocytic nevus, Fine hair, Sparse hair OMIM:277590
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Synophrys, Abnormality of dermal melanosomes, Hypoplastic sweat glan... ORPHA:73223
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot OMIM:613563
Cerebellar-Facial-Dental Syndrome
Sparse hair, Sparse eyebrow, Fine hair ORPHA:444072
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Cafe-... OMIM:601358
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:234100
Dubowitz Syndrome
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F... ORPHA:235
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Noonan Syndrome
Abnormal hair quantity, Coarse hair, Melanocytic nevus, Low posterior hairline ORPHA:648
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... OMIM:181270
Mucolipidosis Type Ii
Dry hair, White hair, Fine hair ORPHA:576
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Mucopolysaccharidosis Type 3
Thick hair, Synophrys, Pigmentary retinopathy, Coarse hair, Generalized hirsutism, Hirsutism ORPHA:581
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Orofaciodigital Syndrome Type 1
Sparse hair, Alopecia, Coarse hair, Brittle hair ORPHA:2750
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Melanocytic nevus, Sparse hair, Thick eyebrow, Hy... OMIM:602535
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair OMIM:218330
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut... ORPHA:955
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair OMIM:252500
Occipital Horn Syndrome
Coarse hair, Pili torti OMIM:304150
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Abnormality of skin pigmentation, Pigmentary retinopathy, Spa... OMIM:133540
Melnick-Needles Syndrome
Coarse hair, Frontal hirsutism OMIM:309350
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow OMIM:280000
Cockayne Syndrome A
Dry hair, Retinal pigment epithelial mottling, Abnormality of skin pigmentation, Pigmentary retin... OMIM:216400
Fontaine Progeroid Syndrome
Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars... OMIM:612289
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair ORPHA:90324
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment... OMIM:305600
Distal Deletion 12Q
Small nail, Fine hair ORPHA:96149
Myhre Syndrome
Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Brushfield spots, Stellate iris, Synophrys, Blue irides, Lon... OMIM:619539
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Coffin-Lowry Syndrome
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow OMIM:303600
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,... OMIM:135900
Cockayne Syndrome
Abnormality of retinal pigmentation, Dry hair, Pigmentary retinopathy, Fine hair ORPHA:191
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Generalized hypopigmentation, Fine hair ORPHA:534
Ogden Syndrome
Sparse eyebrow, Long eyelashes, Fine hair OMIM:300855
Noonan Syndrome 1
Woolly hair, Cafe-au-lait spot, Low posterior hairline OMIM:163950
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair ORPHA:83617
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:210710
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails OMIM:613406
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Melanocytic nevus, Abnormalit... ORPHA:286
Liver Disease, Severe Congenital
Dry hair, Nail dystrophy OMIM:619991
Alström Syndrome
Frontal balding, Hirsutism, Fine hair ORPHA:64

Histopathology

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

There is no histopathology data for Liph

IMPC related publications

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

No publications found that use IMPC mice or data for Liph.

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MGI Allele Allele Type Produced
Liphtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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